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Home , Nucleotidase, Oxipurinol, Sepiapterin reductase

Disorder Index

A AIP. See Acute intermittent porphyria (AIP) AARF domain-containing kinase 3 (ADCK3) defi ciency , 235 AKU. See Alkaptonuria (AKU) ABCB4 defi ciency , 557, 559, 564, 571 Alanine-glyoxylate aminotransferase (AGT) , 376, 466, 467, 471, ABCB11 defi ciency , 557, 564, 571 763, 772 ABCC2 defi ciency , 557, 564 Alanine-glyoxylate aminotransferase defi ciency (peroxisomal) , Abetalipoproteinemia (MTP) , 674, 678 467, 763 ABS. See Antley-Bixler syndrome (ABS) ALDOA defi ciency. See Aldolase A (ALDOA) defi ciency ACAD9 defi ciency. See Acyl-CoA dehydrogenase 9 (ACAD9) Aldoketoreductase 2 defi ciency, Backdoor pathway defect , 605 defi ciency Aldolase A (ALDOA) defi ciency , 269, 821 N -Acetyl-alpha-d -glucosaminidase defi ciency , 450 Aldolase B (ALDOB) defi ciency , 268, 820 N -Acetylaspartic aciduria , 143 Aldosterone synthase defi ciency , 605 Acetyl-CoA alpha-glucosaminide acetyltransferase defi ciency , 450 ALG1-CDG. See Mannosyltransferase 1 defi ciency congenital N -Acetylgalactosamine-4-sulphatase defi ciency , 450 disorders of glycosylation (ALG1-CDG) N -Acetylgalactosamine-6-sulphatase defi ciency , 450 ALG 2-CDG. See Mannosyltransferase 2 defi ciency congenital N -Acetylglucosamine-1-phosphotransferase (alpha/beta) disorders of glycosylation (ALG 2-CDG) defi ciency , 402 ALG3-CDG. See Mannosyltransferase 6 defi ciency congenital N -Acetylglucosamine-1-phosphotransferase (gamma) defi ciency , 402 disorders of glycosylation (ALG3-CDG) N -Acetylglucosamine-6-sulphatase defi ciency , 450 ALG6-CDG. See Glucosyltransferase 1 defi ciency, congenital N -Acetylglucosaminyltransferase 2 congenital defects of glycosylation disorders of glycosylation (ALG6-CDG) (MGAT2-CDG) , 484–486, 489 ALG 8-CDG. See Glucosyltransferase 2 defi ciency, congenital N -Acetylglucosaminyltransferase 2 defi ciency-CDG-IIa , 486, 496 disorders of glycosylation (ALG 8-CDG) N -Acetylglutamate synthase defi ciency , 49, 51, 715, 818 ALG9-CDG. See Mannosyltransferase 7-9 defi ciency congenital Achondrogenesis type IA , 508 disorders of glycosylation (ALG9-CDG) Acid beta-glucosidase defi ciency , 786 ALG11-CDG. See Mannosyltransferase 4-5 defi ciency congenital Acid ceramidase defi ciency , 405 disorders of glycosylation (ALG11-CDG) Acrodermatitis enteropathica , 623, 625, 626, 629–632, 830 ALG 12-CDG. See Mannosyltransferase 8 defi ciency congenital Action myoclonus-renal failure syndrome , 402, 406, 407, 412, 426 disorders of glycosylation (ALG 12-CDG) Acute infantile liver failure , 341, 353, 823 Alkaptonuria (AKU) , 23, 25, 27, 28, 30, 31, 743, 744, 763, 768, 770, Acute intermittent porphyria (AIP) , 541, 542, 544, 546, 549, 825 800, 819 Acyl-CoA dehydrogenase 9 (ACAD9) defi ciency , 249, 250, 255, Alkyldihydroxyacetonephosphate (alkyl-DHAP) synthase defi ciency , 342, 354 385, 388 phosphoribosyl defi ciency , 643, 649, 658, Alpers-Huttenlocher syndrome , 341, 822 659, 824 Alpha-amino adipic semialdehyde (AASA) dehydrogenase defi ciency , deaminase defi ciency , 643, 648, 658, 659, 824 181 Adenosine kinase defi ciency , 34, 35, 40, 41, 758 Alpha-galactosidase A defi ciency , 402, 407 deaminase defi ciency , 643, 648, 658 Alpha-iduronidase defi ciency , 450 Adenosylcobalamin and methylcobalamin synthesis defect Alpha-l -fucosidase defi ciency , 437, 439, 786, 791 -cblC , 207, 212 Alpha-mannosidase B defi ciency , 439 -cblD-MMA/HC , 207, 212 Alpha-methylacetoacetic aciduria , 106, 116, 136 -cblF , 207, 212 Alpha-methylacyl-CoA racemase (AMACR)defi ciency , 377, 384, 387, -cblJ , 207, 212 394, 556, 557, 562, 574, 828 Adenosylcobalamin synthesis defect Alpha-N -acetylgalactosaminidase defi ciency -cbl A , 207, 211, 829 type I , 439 -cbl B , 207, 211, 829 type II , 439 -cblD-MMA , 207, 211 type III , 439 Adenylosuccinate (ADSL) defi ciency , 643, 647, 658, 710, 823 5-alpha-reductase type II defi ciency , 605, 610 AGC1 defi ciency. See Aspartate/Glutamate transporter 1 (AGC1) AMACR defi ciency. See Alpha-methylacyl-CoA racemase (AMACR) defi ciency defi ciency A G T . See Alanine-glyoxylate aminotransferase (AGT) 2-Aminoadipic semialdehyde synthase defi ciency , 693, 700 AHCY defi ciency , 42, 45 Aminoglycoside induced deafness , 342, 355 AICAribosiduria , 643 Amish infantile epilepsy , 485 AICAR transformylase/IMP cyclohydrolase defi ciency , 643, 647 Amish lethal microcephaly , 315

N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 831 DOI 10.1007/978-3-642-40337-8, © Springer-Verlag Berlin Heidelberg 2014 832 Disorder Index

Amish microcephaly , 227, 229 Beta-aminoisobutyrate-pyruvate transaminase defi ciency , 644, 652, Amnionless defi ciency , 207 824 Amylo-1,6-glucosidase (debrancher) defi ciency , 269 Beta-enolase defi ciency , 269, 821 Analphalipoproteinemia/hypoalphalipoproteinemia , 686 Beta-galactosidase defi ciency , 438, 450 Andersen disease , 820 Beta-galactosidase-1 defi ciency , 401 Androgen insensitivity syndrome , 605, 611 Beta-1,4-galactosyltransferase 1 defi ciency , 487, 504, 826 Angiokeratoma , 407, 408, 412, 441, 442 Beta-1,4-galactosyltransferase 7 defi ciency , 486, 499, 826 ANGPTL3 defi ciency , 674, 688 Beta-glucuronidase defi ciency , 450 Antiquitin (ALDH7A1) defect , 180 Beta-ketothiolase , 361, 710, 711 Antley-Bixler syndrome (ABS) , 587, 588, 594, 596, 604, 611, 824 Beta-ketothiolase defi ciency , 104, 106, 129, 132, 137, 362, 368, 728, AOA1. See Ataxia oculomotor apraxia 1 (AOA1) 734, 768 APOA1. See Apolipoprotein A-I (APOA1), defi ciency Beta-mannosidosis , 437–441, 445–447, 786, 790 APOC2. See Apolipoprotein C-II defi ciency (APOC2) 5-beta-reductase defi ciency , 557, 568, 573 APOE. See Dysbetalipoproteinemia (APOE) Beta-ureidopropionase defi ciency , 644, 652, 824 Apolipoprotein A-I (APOA1) B4GALT1-CDG , 484, 485, 487, 489 defi ciency , 675, 680, 683, 688, 689, 825 B4GALT7-CDG , 484, 486 structural mutations , 675 B3GALTL-CDG , 484, 485, 487 Apolipoprotein C-II defi ciency (APOC2) , 675, 681, 683, 688, 689 d -Bifunctional protein defi ciency , 375, 377, 387, 394, 557 Apparent mineralocorticoid excess , 601, 603, 605, 609 Bilateral striatal necrosis (SLC25A19) , 227–231, 345, 829 Aprataxin (APTX) defi ciency: secondary coenzyme Q10 defi ciency , Bile acid amidation defect , 557, 824 235 Bile acid-CoA:aminoacid N -acyl transferase defi ciency , 377 Arginase 1 defi ciency , 49 Bile acid-CoA defi ciency , 556, 557, 563, 574, 575 Arginine:glycine amidinotransferase defi ciency , 530, 531, 823 Biotinidase defi ciency , 219–224, 702, 710, 716, 724, 734, 768, 777, Argininemia , 49, 53 829 Argininosuccinate lyase defi ciency , 49, 728, 750, 756, 757 Branched-chain alpha-keto acid dehydrogenase complex (BCKDC) Argininosuccinate synthetase defi ciency , 49, 750, 756, 757 defi ciency , 104, 106, 124, 818 Argininosuccinic aciduria , 49, 52, 715, 734, 746, 750, 756, 818 B12-responsive MMA and homocystinuria , 205–207 ARH. See Autosomal recessive hypercholesterolemia (ARH) Brown-Vialetto-Van Laere syndrome , 233–235, 237, 239, 242 Aromatase defi ciency , 601, 603, 605, 611 Byler disease , 825 Aromatic l -amino acid decarboxylase defi ciency , 515–517, 519, 828 Arterial tortuosity syndrome , 268, 275 Arts syndrome. See Phosphoribosyl pyrophosphate synthetase 1 defects C Arylsulphatase A defi ciency , 401 CABC1/ADCK3 defi ciency , 235, 238, 242 Arylsulphatase B defi ciency. See Maroteaux - Lamy disease Canavan disease , 148, 151, 154, 413–146, 803, 806, 807, 809, Aspartate/glutamate transporter 1 (AGC1) defi ciency , 85, 87, 93, 95, 813, 814 96, 98 Carbamoyl synthetase I (CPS1) defi ciency , 49, 51, Aspartylglucosaminidase defi ciency , 757 58–61, 756 Aspartylglucosaminuria , 437, 439, 440, 445–447, 786, 788, 827 Carbamyl phosphate synthetase (CPS) defi ciency , 715, 757 Ataxia oculomotor apraxia 1 (AOA1) , 235, 238 Carnitine acylcarnitine defi ciency (30 patients) , 250, 252 ATP8B1 defi ciency , 557, 563, 571 Carnitine palmitoyl-CoA transferase 1 defi ciency , 250 ATP synthase defi ciency , 104, 341, 349, 823 Carnitine palmitoyl-CoA transferase 2 defi ciency , 250 ATP6VOA2-CDG , 488 Carnitine palmitoyltransferase 1(CPT I) defi ciency , 248, 250, 252, Atransferrinemia , 634, 635, 638 728, 772, 821 Autosomal dominant GTPCH defi ciency , 20 Carnitine palmitoyltransferase 2 (CPT II) defi ciency , 249, 250, 253, Autosomal dominant hypercholesterolemia , 673, 674, 677, 683, 689 260, 262, 728, 775, 779, 782, 783, 821 type 2 (binding-defective apo B) , 674 Carnitine transporter defi ciency , 248, 250, 252, 260, 262, 821 type 3 (PCSK9 gain-of-function) , 674 Carnitine uptake defect (CUD), 250, 726–728, 745, 746 type B. See Familial defective apolipoprotein B (APOB) Carnosinase defi ciency , 693, 699 Autosomal recessive hypercholesterolemia (ARH) , 674, 678, 683, Carnosinemia and homocarnosinosis , 693, 694 686, 687, 689 cblG defi ciency , 206, 207 CDG-Ia , 486, 490 CDG-Ib , 486, 491 B CDG-Ic , 486, 491 BAAT defi ciency. See Peroxisomal bile acid-CoA amino acid CDG-Ig , 486, 492 transferase (BAAT) defi ciency CDG-Ih , 486, 493 Ballinger-Wallace syndrome , 340 CDG-Ii , 486, 493 Barth syndrome , 104, 106, 111, 124, 126, 128, 129, 132, 136, 711, CDG-IIa , 486, 496 746, 747, 762, 771 CDG-IIb , 486, 497 Bassen-Kornzweig syndrome , 674 CDG-IId , 487, 491 Batten Spielmeyer-Vogt disease , 402 CDG-IIe , 487, 503, 746 BCAA aminotransferase defi ciency , 106, 107, 128, 129 CDG-IIf , 487, 504 BCAA transaminase , 106 CDG-IIg , 487, 492 BCKDC defi ciency. See Branched-chain alpha-keto acid CDG-IIh , 487, 493 dehydrogenase complex (BCKDC) defi ciency CDG-Ij , 486, 494 Beta-alanine alpha-ketoglutarate transaminase defi ciency , 644, 652 CDG-Ik , 486, 494 CDG-IL , 486, 495 Disorder Index 833

CDG-Im , 487 Combined MMA and MA , 106, 121–122, 129 CDG-In , 486, 496 Combined oxidative phosphorylation defect CDG-Ip , 486 1 , 341, 349, 823 Cerebral defi ciency , 168–170 2 , 341, 349, 823 Cerebral folate defi ciency due to FOLR1 autoantibodies , 168, 169, 3 , 341, 349, 823 173, 175, 177, 829 4 , 341, 350, 823 Cerebroside activator defi ciency , 401 5 , 341, 350, 823 Cerebrotendinous Xanthomatosis , 557, 576, 747, 804, 806, 824 6 , 341, 350, 823 Ceroid lipofuscinosis, neuronal 7 , 341, 350, 823 1 , 402, 416, 424, 426 Combined saposin defi ciency , 402, 405, 412, 426 2 , 402, 417, 424, 426 Combined semialdehyde dehydrogenase defi ciency , 106 3 , 402, 417, 426 Combined oxidase and aldehyde oxidase defi ciency, 643, 649, 658 4A , 402, 418, 426 Complex I assembly disorder , 250, 255 4B , 402, 418, 426 Complex I defi ciency , 340, 348, 823 5 , 402, 419, 426 Complex II defi ciency , 340, 348, 823 6 , 402, 419, 426 Complex III defi ciency , 340, 348, 823 7 , 403, 420, 426 Complex IV defi ciency , 341, 349, 823 8 , 403, 420, 426 Complex V defi ciency , 341 9, Northern epilepsy variant , 403, 421, 426 Component of COG complex 10 , 403, 421, 424, 426 1 defi ciency , 487, 506, 826 11 , 403, 422 5 defi ciency , 487, 507 12 , 403, 422 6 defi ciency , 488, 508 13 , 403, 422 7 defi ciency , 487, 506, 826 14 , 403, 423 8 defi ciency , 487, 507, 826 cathepsin D-defi cient , 403 Congenital adrenal hyperplasia , 602, 605, 703, 724, 734, 740 congenital , 400, 401 Congenital cataracts, hearing loss, and low serum copper and Parry type. See 4B ceruloplasmin, 625 CESD. See Cholesteryl ester storage disease (CESD) Congenital dyserythropoietic anemia type II , 509 CETP. See Cholesteryl ester transfer protein defi ciency (CETP) Congenital erythropoietic porphyria , 541, 542, 544, 546, 553, 825 Chaperone-activity of BC1 complex-like, CABC1 Congenital hemidysplasia with ichthyosiform erythroderma and limb defi ciency , 235 defects, 588, 824 Childhood-onset autosomal dominant optic atrophy , 340, 347, 822 Congenital hypophosphatasia , 180, 181, 184, 186, 187, 189 CHILD syndrome , 586, 588, 592, 596 Congenital pernicious anemia , 207 Cholesterol 7α-hydroxylase defi ciency , 556, 557, 561, 574, 824 Congenitial alloimmune hepatitis , 635 Cholesterol side-chain cleavage defi ciency , 605, 607 Conradi-Hünermann syndrome , 586, 588 Cholesteryl ester storage disease (CESD) , 402, 405, 431 Constitutional AMP-activated protein kinase activation , 269, 283 Cholesteryl ester transfer protein defi ciency (CETP) , 674, 679, 683, COPII component SEC23B defi ciency , 488, 509, 826 688, 689 Coproporphyrinogen oxidase defi ciency , 543 Chondrodysplasia punctata 2 CoQ2 defi ciency , 235, 238 female , 588, 591 CoQ6 defi ciency , 235, 238 male , 588, 592 CoQ9 defi ciency , 235, 238 Chondrodystrophy, hydropic and prenatally lethal. See Greenberg Cori disease , 820 skeletal dysplasia Corpus callosum agenesis with dysmorphism Chondroitin sulfate synthase 1 defi ciency , 486, 498 and fatal lactic acidosis, 341 CHSY1-CDG , 484, 486 Corticosterone methyl oxidase defi ciency , 601, 603, 605, 609 Citrin defi ciency , 49, 56, 85, 703, 728, 756–758 Cortisone reductase defi ciency , 603, 605, 610 Citrullinemia type I , 49, 52, 734, 756, 757 Costeff syndrome , 104, 106, 113, 124, 126, 128, 129, 132, 136, 762, Citrullinemia type II , 48, 49, 54, 58–61, 728, 756–758 771, 818 CK syndrome , 586, 588, 593, 596, 598 CPS defi ciency. See Carbamyl phosphate synthetase (CPS) defi ciency Classical citrullinemia. See Citrullinemia type I CPS1 defi ciency. See Carbamoyl phosphate synthetase I (CPS1) Classical homocystinuria , 33–35 defi ciency Classical phenylketonuria , 3, 743, 744 Creatine transporter defi ciency , 530, 532, 823 CLN8 disease CrT or SLC6A8 defi ciency , 529, 530, 534, 537 late infantile variant , 403 Cubilin defi ciency , 207 progressive epilepsy with mental retardation , 403 Cutis laxa, autosomal recessive, type IIA; wrinkly skin syndrome , 819 CLN5 Finnish variant , 827 Cu(2+)-transporting ATPase, alpha polypeptide (ATP7A) defi ciency , 624 CLN6 late infantile variant , 402 CYP51 defi ciency , 587, 588 CLN7 Turkish variant , 403 Cystathionase defi ciency , 34, 35, 39, 41, 819 CMP-sialic acid transporter defi ciency , 487, 504, 826 γ-Cystathionase defi ciency , 693 Cobalamin R binder protein defi ciency. See Haptocorrin defi ciency Cystathionine beta-synthase defi ciency , 33–35, 39, 703, 728, 758, 819 Coenzyme Q10 defi ciency , 235, 342, 354, 358 Cystathionine gamma-lyase defi ciency , 35 COG1-CDG , 484, 487 Cystathioninuria , 693, 696, 702, 745 COG5-CDG , 484, 487 Cysteinyl-glycinase defi ciency , 618, 661, 820 COG6-CDG , 484, 488 Cysteinyl leukotriene synthase 4 defi ciency , 618 COG7-CDG , 484, 487 Cystinuria , 34, 85–89, 93, 94, 96–98, 700, 744, 745, 750, 753, 757, COG8-CDG , 484, 487 758, 819 834 Disorder Index

Cytochrome P450, family 51 defi ciency , 588 Ehlers-Danlos syndrome, progeroid form. Cytosolic acetoacetyl-CoA thiolase defi ciency , 362, 365, 821 See Beta-1,4-galactosyltransferase 7 defi ciency Electron transfer fl avoprotein defi ciency, electron transfer defect , 821 Electron transfer fl avoprotein dehydrogenase defi ciency, electron D transfer defect, 251 Danon disease , 785, 786, 828 Elevated lipoprotein(a) (LPA) , 675, 682, 683, 688, 689, 778 Decaprenyl diphosphate synthase (DPS) defi ciency , 235 Encephalomyopathy Decreased thiopurine tolerance , 644, 654 with methylmalonic aciduria , 315, 341, 822 7-Dehydrocholesterol reductase defi ciency , 588 with renal tubulopathy , 341 3-beta-Dehydrogenase defi ciency , 557 respiratory failure and lactic acidosis , 341 Delta-aminolevulinate dehydratase defi ciency , 542, 545 Episodic ataxia due to EAAT1 glutamate transporter defect , 87, 90 Deoxyguanosine kinase defi ciency , 642, 644, 653, 658, 824 Episodic ataxia type 6 , 86 Desmosterolosis , 586–588, 593, 596, 599, 824 Erythroid 5-aminolevulinate synthase Desmosterol reductase defi ciency , 588 defi ciency , 542 DHCR7 defi ciency , 586, 588, 599, 824 gain of function , 542 DHDPSL defi ciency , 466 Erythropoietic protoporphyria , 541, 543, 544, 548, 550, 553, 725, 739 D-2-hydroxyglutarate dehydrogenase defi ciency , 145, 818 Essential fructosuria , 268, 277, 744, 820 D-2-hydroxyglutaric aciduria Estrogen defect , 605 type I , 143, 145, 147, 149, 154 Estrogen resistance , 603, 604 type II , 143, 145, 147, 149, 154 ETHE1 defi ciency , 158 Dibasic aminoaciduria type I , 86, 87, 90, 93, 94, 96 Ethylmalonic aciduria , 105, 133, 138, 143, 161, 162, 205–207, 250, Dicarboxylic aminoaciduria , 85–87, 89, 93, 94, 96, 757 313, 315, 320, 693, 704, 743, 810, 813, 818 Digenic hyperbilirubinaemia, rotor type. Ethylmalonic encephalopathy , 157–162, 704, 728, 777, 823 See OATP1B1 and OATP1B3 disease Exostosin 1 congenital defects of glycosylation (EXT1-CDG) , defi ciency , 168, 169, 172, 175, 176, 829 483–486 Dihydrolipoyl dehydrogenase defi ciency , 305, 821 Exostosin 2 congenital defects of glycosylation (EXT2-CDG) , Dihydrolipoyl transacetylase defi ciency , 305, 821 483–486 Dihydroorotate dehydrogenase defi ciency , 643, 650, 824 Exostosin 1 defi ciency , 486, 498 Dihydropteridine reductase defi ciency , 4, 6–7, 12, 17, 19, 829 Exostosin 2 defi ciency , 486, 498 Dihydropyrimidinase defi ciency , 644, 652, 659, 824 Dihydropyrimidine dehydrogenase defi ciency , 644, 651, 657, 659, 824 Dihydropyrimidinuria , 644 F 2,8-Dihydroxyadeninuria , 643 Fabry disease , 399, 402, 407–408, 412, 424, 426, 428–430, 729, 785, Dimethylglycine dehydrogenase defi ciency , 693, 799 786, 803, 804, 806, 811, 827 Dimethylglycinuria , 693, 695, 699, 744, 830 Familial combined hyperlipidemia , 675, 681, 683, 688, 689 Dolichol kinase congenital defects of glycosylation (DK1-CDG) , 484, Familial combined hypolipidemia (ANGPTL3) , 674, 679, 683, 688, 487, 489 689 Dolichol kinase defi ciency , 487, 505, 826 Familial defective apolipoprotein B (APOB) , 672–674, 677, 678, 683, Dolichol phosphomannose 1 (DPM1-CDG) , 484, 487, 489 686, 687, 689, 825 Dolichol phosphomannose 3 (DPM3-CDG) , 484, 487, 489 Familial hyperalphalipoproteinemia type 1 , 674 Dolichol phosphomannose utilization congenital defects of Familial hypercholesterolemia heterozygous (LDLR) , 674, 676, 677, glycosylation (MPDU1-CDG), 484, 487, 489 683, 685–687, 689, 825 Dol-P-Man synthase 1 defi ciency. See GDP-Man:Dol-P Familial hypercholesterolemia homozygous (LDLR) , 674, 676, 677, mannosyltransferase subunit 1 defi ciency - CDG Ie 683, 685–687, 689, 825 Dol-P-Man synthase 3 defi ciency. See GDP-Man:Dol-P Familial hyperchylomicronemia , 686 mannosyltransferase 3 defi ciency Familial hypotransferrinemia , 634, 635 Dol-P-Man utilization 1 defi ciency , 487, 503 Familial LCAT defi ciency Dopamine beta-hydroxylase defi ciency , 517, 520, 828 complete , 675, 680, 683, 688, 689 Dopamine transporter defi ciency , 516, 517, 521 partial , 675, 680, 683, 688, 689 Dopamin-serotonin vesicular transport defect , 516, 517, 521, 526 Familial protein intolerance. See Lysinuric protein intolerance Dopa-responsive (DRD) , 3, 4, 7, 10, 17, 20 Fanconi-Bickel syndrome , 265, 266, 268, 275, 295, 746, 820 Doss porphyria , 541, 542, 545 Farber disease , 402, 403, 405, 413, 426, 431, 786, 827 D4-3-Oxosteroid-5β-reductase defi ciency , 557, 560, 573 Farber lipogranulomatosis , 402, 786 DPAGT1-CDG , 484, 486, 489 Fatal infantile lactic acidosis , 341, 822 DPS defi ciency. See Decaprenyl diphosphate synthase (DPS) Fazio-Londe syndrome , 233–235, 237, 239, 242 defi ciency Fellman disease , 634, 635 DRD. See Dopa-responsive dystonia (DRD) Fellman syndrome , 340 Dubin-Johnson syndrome , 557, 575, 618 Ferrochelatase defi ciency , 543 Dynamin-like protein 1 defi ciency , 377, 388 Finnish lethal neonatal metabolic syndrome , 635, 827 Dysbetalipoproteinemia (APOE) , 675, 681, 683, 688, 689, 747 Fish eye disease , 675, 825 Dystonia deafness syndrome , 313, 340 Fish odor syndrome , 693, 699, 799 Flavin-containing monooxygenase 3 (FMO3) defi ciency , 693, 699, 799, 830 E Flippase of Man5GlcNAc2-PP-Dol defi ciency-CDG-In , 484, 486, Early fatal progressive hepatoencephalopathy , 341 496, 826 Early infantile epileptic encephalopathy 3 (EIEE3) , 87, 96, 341, 353 Folate receptor alpha (FRα) defi ciency , 167–169, 171, 175, 176, 710 Early onset steroid-resistant nephrosis with sensorineural deafness , Forminoglutamic aciduria (FIGLU) , 693, 757 235 5-Formyltetrahydrofolate cycloligase , 169 Disorder Index 835

Fructokinase defi ciency (FK-D) , 267–269 mild , 662, 664, 665 Fructose-1,6-bisphosphatase defi ciency , 268, 278, 820 severe , 662, 664, 665 Fructose-1-phosphate aldolase defi ciency , 267, 268 Glutathionuria , 618, 661–663, 665, 745, 820 O-Fucose-specifi c beta-1,3-N -acetylglucosaminyltransferase GLUT1 defi ciency , 268, 286 defi ciency , 487, 501, 826 GLUT2 defi ciency , 268 O-Fucose-specifi c beta-1,3-N -glucosyltransferase defi ciency , 487, GLUT10 defi ciency , 268 501, 826 d -Glycerate dehydrogenase defi cency , 466, 467 Fucosidosis , 437–441, 444–446, 786, 788, 806, 807, 827 Glycerate kinase defi ciency , 267, 268, 278 O-Fucosylglycan synthesis (LFNG-CDG) , 484, 485, 487 d -Glyceric acidaemia , 267, 268, 297, 746 Fumarase defi ciency , 313–315, 317, 319–321, 821 Glycerol kinase defi ciency, isolated , 693, 696 Fumaric aciduria , 315, 768 Glycine encephalopathy , 63, 81, 750, 757 Fumarylacetoacetase defi ciency , 25, 728 Glycine N -methyltransferase defi ciency , 33, 35, 38, 703, 758, 819 Glycogen branching defi ciency , 268 Glycogen storage disease G type 0a , 268, 821 GABA transaminase defi ciency , 65, 69, 74, 81, 82, 717, 757, 828 type 0b , 268, 278, 821 Galactocerebrosidase defi ciency , 401, 424, 426, 728 type I a , 268, 279 Galactokinase defi ciency (GALK-D) , 266, 268, 276, 728, 820 type I non-a , 268, 280 Galactosaemia , 266–268, 276, 289, 295, 820 type II a , 268, 281 Galactose-1-phosphate uridyltransferase defi ciency , 266, 268, 728 type II b , 269 Galactosialidosis , 399–401, 403, 404, 408, 409, 426, 431, 438, 444, type III , 282, 820 711, 786, 790, 828 type IV , 268, 279, 820 GALTNT3-CDG , 486 type V , 269, 282, 820 Gamma-glutamylcysteine synthetase defi ciency , 662, 664, 820 type VI , 269, 282, 820 Gamma-glutamyl transferase defi ciency , 662, 663 type VII , 269, 284, 820 Gamma-glutamyl transpeptidase defi ciency , 556, 559–564, 580, type IX a-c , 269 617–621, 661–663, 666, 668, 747, 755 type IXd , 269, 283 Gaucher disease , 399, 401, 402, 406–407, 411, 412, 424, 426–430, type X , 269, 285, 821 446, 462, 710, 711, 786, 827 type XI , 269, 286, 820 Gaucher disease-like disorder due to saposin C defi ciency , 402, 412, type XII , 269, 284 426 type XIII , 269, 285 GCS1-CDG , 484–486, 489 type XIV , 268, 279, 821 GDP-fucose transporter defi ciency , 487, 504, 511, 826 type XV , 268, 279, 821 GDP-Man:Dol-P mannosyltransferase 3 defi ciency , 487, 503 Glycosylasparaginase defi ciency , 437, 439 GDP-Man:Dol-P mannosyltransferase subunit 1 defi ciency-CDG Ie , Glycosylphosphatidylinositol defi ciency , 483, 484, 826 487, 503 Glyoxylate reductase defi ciency , 467, 472 Global cerebral hypomyelination , 86, 341, 353 GM2 activator defi ciency , 401 due to AGC1 defect , 85, 87, 91, 93, 95 GMAP210-CDG , 484, 488 Globoid cell leukodystrophy , 401, 786 GM1-gangliosidosis , 399–401, 403, 408, 424, 426, 430, 445, 827 Glucocerebrosidase defi ciency , 401 GM2-gangliosidosis Glucocorticoid receptor defect , 605 AB variant , 401, 404, 410, 426, 827 Glucocorticoid resistance , 604, 605, 612 B-variant , 401, 827 Glucocorticoid suppressible hyperaldosteronism , 601, 603, 605, 609 O-variant , 401 Glucose-6- defi ciency , 268 GNE-CDG , 483, 487 Glucose-6-phosphate translocase defi ciency , 268 GNMT defi ciency , 34–36, 41, 42, 45 Glucose transporter-1 defi ciency , 265, 266, 268, 274, 293–295 Goldberg syndrome , 786 Glucosidase 1 defi ciency-CDG-IIb , 486 Golgi-microtubule-associated protein, 210 kD, Glucosyltransferase 1 defi ciency defi ciency , 488, 508 -CDG-Ic , 486 GPHN () defi ciency. See Molybdenum congenital disorders of glycosylation (ALG6-CDG) , 484, 486, defi ciency C 489 Gracile syndrome , 634–635, 638, 822 Glucosyltransferase 2 defi ciency Greenberg skeletal dysplasia , 587, 588, 594, 824 -CDG-Ih , 486 Growth retardation, aminoaciduria, cholestasis, iron overload, lactic congenital disorders of glycosylation (ALG 8-CDG) , 484, acidosis and early death (GRACILE) syndrome , 340, 486, 489 634–635, 638, 822 Glutamate formimino transferase defi ciency , 693, 694, 777, 783, 819 GS defi ciency , 49, 58–61 Glutamate gamma-semialdehyde synthetase. See Hypoprolinaemia GTP cyclohydrolase defi ciency , 4, 6 Glutamine synthetase defi ciency , 49, 54 Guanidinoacetate methyltransferase defi ciency , Glutaric acidemia type I , 144, 145, 734, 777 530, 531, 814, 823 Glutaric aciduria Gyrate atrophy of the choroid and retina , 530 type 3 , 693, 695, 701 type I , 143–146, 148, 151, 154, 155, 728, 804, 806, 807, 809, 818 type II , 153, 162, 235, 250, 700, 728, 764, 818 H type II, ETF-ubiquinone defi ciency , Haptocorrin defi ciency , 207, 209, 829 250, 702, 821 Hartnup disorder , 85–89, 93, 94, 96, 97, 743, 757 Glutaryl-CoA dehydrogenase defi ciency , 771, 777 Hawkinsinuria , 23, 25, 27, 28, 30, 757, 819 Glutaryl-CoA oxidase defi ciency, peroxisomal , 693 Hemolytic anemia due to GGCS defi ciency , 662 Glutathione synthetase defi ciency Heparan-N -sulphatase defi ciency , 450, 455, 460, 786, 788–790 836 Disorder Index

Hepatic defi ciency (LIPC) , 674, 679, 683, 689, 825 4-Hydroxy-2-oxoglutarate aldolase defi ciency (mitochondrial) , 467 Hepatic uroporphyrinogen decarboxylase defi ciency , 543 4-Hydroxyphenylpyruvate dioxygenase change of function , 25 Hepatocyte nuclear factor 4alpha loss-of-function mutations , 325, 327 4-Hydroxyphenylpyruvate dioxygenase defi ciency , 25, 728, 819 Hepatolenticular degeneration , 625 Hydroxyprolinemia , 693, 694, 698, 728, 758 Hepatorenal tyrosinemia , 725 Hydroxyproline oxidase defi ciency , 693, 698 Hereditary coproporphyria (HCP) , 541–544, 547, 825 Hydroxysteroid dehdrogenase defi ciency Hereditary folate malabsorption , 167–169, 171, 175, 176, 829 17-beta-hydroxysteroid dehdrogenase IV defi ciency. Hereditary fructose intolerance (HFI) , 267, 268, 277, 710, 745, 746, See D-Bifunctional protein defi ciency 757, 820 3-alpha-hydroxysteroid dehydrogenase defi ciency , 605 Hereditary hemochromatosis 11-beta-hydroxysteroid dehydrogenase 2 defi ciency, 605 type 1 , 635, 637 17-beta-hydroxysteroid dehydrogenase defi ciency , 603, 605 type 2a , 635, 637 3-beta-hydroxysteroid dehydrogenase type II , 605, 608 type 2b , 635, 637 17-beta-Hydroxysteroid dehydrogenase type 10 (HSD 10) defi ciency , type 3 , 635, 637 104, 106 Hereditary myopathy with lactic acidosis , 342, 354 3-beta-Hydroxysteroid-delta8, delta7- defi ciency , 588 Heredopathia atactica polyneuritiformis , 377 3-beta-Hydroxysterol-delta24-reductase defi ciency , 588 Hers disease , 820 Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome , Hexosaminidase A and B defi ciency. See Sandhoff disease 49, 728 Hexosaminidase activator defi ciency. Hyperargininemia , 745 See GM2-gangliosidosis AB variant Hyper-beta-alaninaemia , 644, 824 Hexosaminidase A defi ciency. See Tay-Sachs disease Hyperbilirubinaemia, Dubin-Johnson type. See ABCC2 defi ciency HHH syndrome , 49, 53, 56, 58–61, 746, 757, 758, 818 Hyperdibasic aminoaciduria type 2 , 87 HI-HA/HHF6. See Hyperinsulinism-hyperammonemia syndrome Hyperekplexia due to Gly transporter GLYT2 defect , 87, 90 Histidase defi ciency , 693, 698 Hyperglycerolemia , 693 Histidine ammonia-lyase , 698 Hyper IgD syndrome , 590 Histidinemia , 693, 694, 698, 720, 744, 757 Hyperinsulinemic hypoglycaemia-3 HLAH , 636 Hyperinsulinemic hypoglycaemia-4 HMG-CoA lyase defi ciency. See 3-Hydroxy-3-methylglutaryl-CoA Hyperinsulinemic hypoglycaemia-5 (HMG-CoA) lyase defi ciency Hyperinsulinemic hypoglycaemia-6 HMG-CoA synthase defi ciency. See 3-Hydroxy-3-methylglutaryl-CoA Hyperinsulinemic hypoglycemia-7, exercise induced , 328, 330 (HMG-CoA) synthase defi ciency Hyperinsulinism-hyperammonemia syndrome , 48, 49, 324–326 HMGCS2 defi ciency , 362, 821 Hyperinsulinism of infancy , 323, 325 HNF1a defi ciency , 325, 327, 331 Hyperinsulinism of infancy 2 , 325, 326 Holocarboxylase synthetase defi ciency , 219–223, 228, 711, 716, 746, 829 Hyperlipoproteinemia Homocystinuria type 1 , 675 cblD-HC type , 206, 207, 210 type 2A , 674 cblD type, variant 1 , 207 type 2B , 675 due to defi ciency of MTHFR activity , 169 type 3 , 675 Homogentisate 1,2-dioxygenase defi ciency , 25 Hyperlysinemia and saccharopinuria , 693, 695, 700 HSD10 defi ciency , 104. See also 17-beta-Hydroxysteroid Hypermethioninemia dehydrogenase type 10 (HSD 10) defi ciency due to adenosine kinase defi ciency , 35 Hunter disease , 450, 453, 454, 785, 805, 827 isolated persistent. See Methionine adenosyltransferase I/III Hurler, Scheie disease , 446, 450, 453, 454, 827 defi ciency Hyaluronidase defi ciency , 450, 458, 460, 786, 788, 790 Hyperphosphatasemia-mental retardation syndrome , 485 Hydrops-ectopic calcifi cation-moth-eaten skeletal dysplasia , 587 Hyperphosphatemic familial tumoral calcinosis , 484 11-beta-Hydrosteroid dehydrogenase type 1 defect , 605 Hyperprolinaemia, type II , 180, 181, 184–186, 819 4-Hydroxybutyric aciduria , 63, 65, 69, 772 Hyperprolinemia, type I , 819 3-beta-Hydroxy-Δ5-C27-steroid dehydrogenase/isomerase defi ciency , Hypobetalipoproteinemia (APOB) , 672–674, 677, 678, 683, 686, 688, 557, 559 689, 747, 825 3-Hydroxyisobutyrate dehydrogenase defi ciency , 106, 117, 129, 132, Hypobetalipoproteinemia (PCSK9 loss-of-function) , 674 136, 771 Hypoprolinaemia , 819 3-Hydroxyisobutyric aciduria , 105, 106, 746, 818 phosphoribosyltransferase defi ciency, 643, 645, 3-Hydroxyisobutyryl-CoA deacylase defi ciency , 105, 106, 117, 129, 649, 658, 659 132, 136 Hydroxykynureninuria , 691, 693, 695, 701, 819 17-alpha-Hydroxylase , 604, 605, 607 I 21-Hydroxylase defi ciency , 601–603, 605, 608, 614, 728 I-cell disease , 402, 405, 711, 786, 828 11-beta-Hydroxylase type I defi ciency , 605, 609 Iduronate 2-sulphatase defi ciency , 450, 454, 460, 786, 789, 790, 792 Hydroxymethylbilane synthase defi ciency. See Acute intermittent Iminodipeptiduria , 69 porphyria Iminogycinuria , 693, 694 Hydroxymethylglutaric aciduria , 106, 129, 132, 136, 818 Inclusion body myopathy, Nonaka myopathy. See UDP-GlcNAc 3-Hydroxy-3-methyl glutaric aciduria , 106, 114, 128, 129, 131, 132, epimerase/kinase defi ciency 136, 744, 818 Infantile onset multiple carboxylase defi ciency , 220 Hydroxymethylglutaryl-CoA lyase defi ciency , 362, 804 Infantile subacute necrotizing encephalopathy , 340 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase defi ciency , 104, monophosphate dehydrogenase defi ciency , 643, 648, 658 106, 124, 126, 362, 367, 369, 370, 768, 769, 771 Inosine triphosphatase defi ciency , 642, 644, 654, 824 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase defi ciency , Inosine-5ʹ-triphosphate pyrophosphohydrolase defi ciency , 644 362, 366, 369, 370, 821 Intestinal glucose-galactose malabsorption , 265, 266, 268, 274, 293 Disorder Index 837

Intrinsic factor defi ciency (IFD) , 206, 207, 209, 829 L-2-hydroxyglutarate dehydrogenase defi ciency , 145, 818 Isobutyryl CoA dehydrogenase defi ciency , 104, 106, 117, 129, 132, L-2-hydroxyglutaric aciduria , 144, 145, 147, 149, 154, 745, 746, 806, 136, 728, 762, 777, 779 807, 809, 818 Isobutyrylglycinuria , 106 Lipoid adrenal hyperplasia , 601, 602, 605, 607, 746 Isocitrate dehydrogenase defect , 145, 306, 763, 818 defi ciency (LPL) , 672, 675, 681, 683, 685, 686, Isolated defi ciency of long-chain 3-hydroxyacyl-CoA dehydrogenase , 688, 689, 711, 825 250, 254, 255 Liver glycogen phosphorylase defi ciency , 269 Isolated defi ciency of long-chain 3-ketoacyl CoA thiolase (1 patient) , Liver glycogen synthase defi ciency , 268 250 Liver phosphorylase kinase defi ciency , 269 Isolated sulfi te oxidase defi ciency , 188, 811, 819 LPL. See Lipoprotein lipase defi ciency (LPL) Isovaleric acidemia , 104, 106, 109–112, 114, 117, 123–125, 128, 129, 17,20-Lyase defi ciency , 601, 603, 605, 610 131, 134, 135, 221, 702, 710, 728, 734, 744–747, 768, 771, Lysinuric protein intolerance , 57, 85–89, 93, 94, 96–98, 700, 746, 747, 777, 779, 804, 818 750, 753, 757, 819 Isovaleryl-CoA dehydrogenase defi ciency , 104, 106, 109, 762, 777 Lysosomal acid lipase defi ciency , 402, 415, 426, 431, 786 Lysosomal alpha-1,4-glucosidase defi ciency , 268 Lysosomal β-mannosidase defi ciency , 439 J Lysosomal CLN5 protein defi ciency , 402 Jansky-Bielschowsky disease , 402, 827 Lysosomal membrane cobalamin transporter defi ciency , 446 Juvenile cystinosis , 475, 479 Lysosomal palmitoyl protein -1 defi ciency , 402 Juvenile optic atrophy , 340 Lysosomal transmembrane CLN3 protein defi ciency , 402 Lysosomal tripeptidyl-peptidase-1 defi ciency , 402

K Kanzaki disease , 437, 439, 442, 446, 790 M Kearns Sayre syndrome , 340, 345, 347, 348, 822 MADA defi ciency. See Adenosine monophosphate deaminase Kelley-Seegmiller syndrome. See Hypoxanthine guanine defi ciency phosphoribosyltransferase defi ciency MADD. See Multiple acyl-CoA dehydrogenase defi ciency (MADD) 2-Ketoadipic and 2-aminoadipic academia , 693, 695, 701 transporter 1 defi ciency (MAGT1-CDG) , 483–486, 489, 2-Ketoglutarate dehydrogenase defi ciency , 64, 693 498 Ketohexokinase defi ciency , 277 Malonic aciduria , 105, 106, 129, 133, 138, 777 Kinky (steely) hair disease , 625 Malonyl-CoA decarboxylase defi ciency , 105, 106, 728 Krabbe disease , 401, 403, 404, 411, 424, 426, 430–431, 446, 729, 733, O-Mannose beta-1,2-N-acetyglucosaminyltransferase defi ciency , 487, 786, 827 501, 826 Krabbe disease-like disorder due to saposin A defi ciency , 401, 426, Mannosidosis , 439, 441 431 Mannosyltransferase 4-5 defi ciency (ALG11-CDG) , 484, 486, 495 Kufor-Rakeb syndrome, Parkinson disease 9 , 403 O-Mannosyltransferase 1 defi ciency , 487, 500, 826 Kufs disease O-Mannosyltransferase 2 defi ciency , 487, 500, 826 dominant type , 402, 827 Mannosyltransferase 6 defi ciency-CDG-Id , 484, 486, 491, 826 recessive type , 402 Mannosyltransferase 8 defi ciency-CDG-Ig , 484, 486, 491, 492, 826 Kynureninase defi ciency , 701 Mannosyltransferase 2 defi ciency-CDG-Ii , 484, 486, 487, 493, 826 Mannosyltransferase 1 defi ciency-CDG-Ik , 484, 486, 487, 494, 500, 503, 826 L Mannosyltransferase 7-9 defi ciency-CDG-IL , 484, 486, 495, 826 Lactate dehydrogenase A defi ciency , 269 Mannosyltransferase 1 defi ciency congenital disorders of Lactosylceramide alpha-2,3-sialyltransferase defi ciency , 487, 502, 826 glycosylation (ALG1-CDG), 484, 486, 489 LAMP2 defi ciency , 269 Mannosyltransferase 2 defi ciency congenital disorders of Lanosterol demethylase defi ciency , 587, 588, 595, 596 glycosylation (ALG 2-CDG), 484, 486 Late onset multiple carboxylase defi ciency , 220 Mannosyltransferase 4-5 defi ciency congenital disorders of Lathosterolosis , 587, 588, 593, 596, 824 glycosylation (ALG11-CDG), 484, 486, 489, 495 L C A T . See Lecithin cholesterol acyl transferase defi ciency (LCAT) Mannosyltransferase 6 defi ciency congenital disorders of l -dopa responsive dystonia , 14, 517 glycosylation (ALG3-CDG), 484, 486, 489 Leber hereditary optic neuropathy (LHON) , 243, 340, 348, 357, 822 Mannosyltransferase 7-9 defi ciency congenital disorders of Leber optic atrophy and dystonia , 340 glycosylation (ALG9-CDG), 484, 486, 489 LEC35 defi ciency , 826 Mannosyltransferase 8 defi ciency congenital disorders of Lecithin cholesterol acyl transferase defi ciency (LCAT) , 672, 675, glycosylation (ALG 12-CDG), 484, 486, 489 680, 683, 685, 686, 688, 689, 711, 747, 825 Maple syrup urine disease (MSUD) , 71, 103, 104, 106, 108, 124, 126, Leigh syndrome , 112, 230, 234, 235, 237, 304, 307, 308, 318, 344, 127, 130, 134, 135, 138, 146, 710, 713, 724, 726, 728, 348–350, 354, 806, 822, 823 732–734, 744–746, 750, 753, 755–758, 762, 807–809, 818 with French-Canadian ethnicity , 340, 344 Maroteaux-Lamy disease , 827 Lesch-Nyhan syndrome , 641, 643, 824 MAT defi ciency , 34, 35, 41, 42, 44, 45, 362, 368–370, 693 Lethal infantile mitochondrial myopathy , 340, 344 Maternally inherited deafness and diabetes , 340, 346, 822 Leukocyte adhesion defi ciency, type II. See GDP-fucose transporter Maternally inherited mitochondrial dystonia , 340, 345, 822 defi ciency MBD defi ciency. See 2-Methylbutyryl-CoA dehydrogenase (MBD) Leukoencephalopathy with brainstem and spinal cord involvement and defi ciency lactate elevation , 341, 354, 823 McArdle disease , 820

Leukotriene C4 (LTC4 ) defi ciency , 617–619, 621 Medium-chain acyl CoA dehydrogenase defi ciency , 153, 234, LFNG-CDG. See O-Fucosylglycan synthesis (LFNG-CDG) 249–251, 256, 724, 728, 734, 745, 764, 777, 779, 821 LHON. See Leber hereditary optic neuropathy (LHON) Mednik syndrome , 625, 629, 631 838 Disorder Index

Megaloblastic anemia-1 cblJ type , 207 Finnish type , 439 Methylmalonyl-CoA epimerase defi ciency , 693, 697, 703, 818 Norwegian type , 291 Methylmalonyl-CoA mutase defi ciency , 105, 106, 216, 217, 728, 818 Megaloblastic anemia due to DHFR defi ciency , 169 Mevalonate kinase defi ciency , 585, 588, 590, 596, 770, 824 MEGDEL syndrome , 104, 106, 112, 124, 126, 128, 129, 132, 136 Mevalonic aciduria , 585, 588, 597, 711, 746, 747, 768 Membrane-bound dipeptidase defi ciency , 617, 618, 620, 621 MGAT2-CDG. See N -Acetylglucosaminyltransferase 2 congenital Menkes disease , 623–626, 628, 630–632, 710, 711, 804, 806, 809 defects of glycosylation (MGAT2-CDG) Metachromatic leukodystrophy , 401, 403, 405, 411, 424, 426, 431, MHBD defi ciency. See 2-Methyl-3-hydroxybutyryl-CoA 786, 809, 827 dehydrogenase (MHBD) defi ciency Metachromatic leukodystrophy-like disorder due to saposin B Miller syndrome , 643, 650 defi ciency , 401, 411, 426 Mineralocorticoid resistance , 605 Methacrylic aciduria , 105, 106, 818 Mitochondrial aspartate glutamate carrier 1 defi ciency , 341, 823 5,10-Methenyltetrahydrofolate synthetase defi ciency , 169 Mitochondrial depletion syndrome Methionine adenosyltransferase defi ciency , 33, 34, 693, 697, 703, 758 1 , 341, 351 Methionine adenosyltransferase I/III defi ciency , 35, 37, 41, 728, 819 2 , 341, 351 Methionine synthase defi ciency-cblG , 207, 819 4A , 341, 351 Methionine synthase reductase defi ciency-cblE , 206, 207, 819 3 , 341, 351 Methlymalonic acidemia, TCblR type. 5 , 341, 352 See Transcobalamin receptor defect 8A , 341, 352 Methylacetoacetyl-CoA thiolase defi ciency , 361, 362, 366, 368–370 9 , 341, 352 α-Methylacyl-CoA racemase defi ciency , 377, 384, 394, 556, 557, 562, Mitochondrial DNA depletion syndrome 828 2 (Myopathic type) , 642, 644, 822 2-Methylbutyryl-CoA dehydrogenase (MBD) defi ciency , 104, 106, 3 (Hepatocerebral type) , 644 125, 126, 137, 702 5. See SCS defi ciencies SUCLA2 2-Methylbutyrylglycinuria , 104, 106, 115, 128, 129, 132, 136, 702, 8A and 8B , 644 779 9. See SCS defi ciencies SUCLA2 benign , 693, 696 Mitochondrial glutamate carrier 1 defi ciency , 341, 823 Methylcobalamin defi ciency Mitochondrial 4-hydroxybenzoate-polyprenyltransferase defi ciency, 235 cblE type , 207 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase defi ciency , cblG type , 207 362 Methylcobalamin synthesis defect-cblD-HC , 206, 207, 210, 211, Mitochondrial myopathy, encephalopathy, lactic acidosis and 214–217 stroke-like episodes , 340, 346 Methylcrotonyl-CoA carboxylase defi ciency , 104, 106, 219 Mitochondrial myopathy with diabetes mellitus , 340, 346 3-Methylcrotonyl-CoA carboxylase defi ciency , 104, 106, 221, 693, Mitochondrial myopathy with reversible cytochrome c oxidase (COX) 728, 734, 747, 768, 777, 804 defi ciency , 342, 354 Methylcrotonylglycinuria , 106, 109, 131, 132, 135, 818 Mitochondrial neurogastrointestinal encephalopathy syndrome 3-Methylcrotonylglycinuria , 131, 132, 691, 693, 696, 702, 711, (MNGIE), 341, 642, 644, 711, 822 744–747, 782 Mitochondrial phosphate carrier defi ciency , 341, 352, 823 5,10-Methylene-tetrahydrofolate dehydrogenase defi ciency , 169, 172 Mitochondrial ribonucelotide reductase subunit 2 defi ciency , 824 Methylenetetrahydrofolate reductase defi ciency , 167–169, 172, 176, Mitochondrial pyrophosphate carrier defi ciency , 229 728, 745, 806, 829 Mitochondrial trifunctional protein defi ciency , 248–250, 254, 779, 821 Methylglutaconic aciduria MNGIE. See Mitochondrial neurogastrointestinal encephalopathy type I , 106, 110, 128, 129, 131, 132, 136, 728, 799, 818 syndrome (MNGIE) type II , 106, 128, 129, 818 MoCo defi ciency type III , 106, 128, 129, 818 complementation group A , 193 type IV , 104, 128, 129, 132, 136, 818 complementation group B , 193 3-Methylglutaconic aciduria , 103, 104, 106 complementation group C , 193 3-Methylglutaconyl-CoA hydratase defi ciency , 106, 128, 229, 771, MOCS1 defi ciency , 191–194, 200, 201, 829 777 MOCS2 defi ciency , 191–194, 200, 829 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) defi ciency , Mohr-Tranebjaerg syndrome , 340, 346, 823 104, 106, 115, 125, 126, 129, 132, 136, 137, 368, 762, 768, Molybdenum cofactor defi ciency 770 A , 193, 197, 829 Methylmalonate semialdehyde dehydrogenase defi ciency , 105, 106, B , 193, 197, 829 118, 125, 129, 132, 136, 757, 771, 818 C , 193, 198, 829 Methylmalonic acidemia , 105, 106, 119, 129, 133, 137, 138, 143, Monoamine oxidase A defi ciency , 517, 520 205–207, 313, 320, 341, 704, 743, 804, 813, 818, 822 Monocarboxylate transporter gain-of-function , 325 Methylmalonic aciduria Morquio A disease , 450, 456, 827 3 , 693 Morquio B disease , 450, 457, 827 cblA type , 207 MPDU1-CDG. See Dolichol phosphomannose utilization congenital cblB type , 207 defects of glycosylation (MPDU1-CDG) cblD-MMA type , 207 MPI-CDG. See Phosphomannose isomerase congenital defects of B12 responsive, cblA type , 207 glycosylation (MPI-CDG) vitamin B12 responsive, cblB type , 207 MSUD. See Maple syrup urine disease (MSUD) vitamin B12 responsive, cblD type , 206, 207 Mucolipidosis II alpha/beta , 402, 414, 426 Methylmalonic aciduria and homocystinuria Mucolipidosis III alpha/beta , 402, 414, 426 cblC type , 206, 207 Mucolipidosis III gamma , 402, 415, 426 cblD type , 206, 207 Mucolipidosis type I , 439 cblF type , 207 Mucopolysaccharidosis type IVB variant , 450, 453, 457 Disorder Index 839

Mucosulfatidosis. See Multiple sulphatase defi ciency Orotidine-5-monophosphate decarboxylase defi ciency , 643 Multiple acyl-CoA dehydrogenase defi ciency (MADD) , 234, 235, 2-Oxoglutarate dehydrogenase defi ciency , 146, 821 239, 242, 249, 250, 257, 260, 396, 700, 710, 711, 716, 772, 2-Oxoglutaric aciduria , 313–316, 319–321 777, 779, 804, 821 Oxoprolinase defi ciency , 661, 662, 668, 693, 696, 702, 703, 770 Multiple cartilaginous exostoses 5-Oxoprolinase defi ciency , 661, 662, 668 type I , 484 Oxoprolinuria , 661–663, 665, 667, 820 type II , 484 5-Oxoprolinuria , 661, 662, 667, 768 Multiple sulphatase defi ciency , 402, 828 3-Oxothiolase defi ciency , 104, 744, 818 Muscle glycogenin defi ciency , 268 Oxysterol 7α-hydroxylase defi ciency , 556, 557, 561, 568, 574, 824 Muscle glycogen synthase defi ciency , 268 Muscle phosphofructokinase defi ciency , 269 Muscle phosphoglycerate kinase defi ciency , 269, 285 P Muscle phosphoglycerate mutase defi ciency , 269 -associated neurodegeneration (PKAN) , 635 Muscle phosphorylase defi ciency , 269 PCSK9 defi ciency with low LDL , 674, 679, 683, 688, 689 Muscle phosphorylase kinase defi ciency , 269, 820 PDHC E2 defi ciency , 305 Muscular dystrophy-dystroglycanopathy type A1,-type B1,-type C1. PDHC E3 defi ciency , 305 See O-Mannosyltransferase 1 defi ciency Pearson marrow-pancreas syndrome , 340 Muscular dystrophy-dystroglycanopathy type A2,-type B2,-type C2. Pearson syndrome , 340, 345, 711, 822 See O-Mannosyltransferase 2 defi ciency Peroxisomal acyl-CoA oxidase 1 defi ciency , 375, 377, 383, 387, 394, Muscular dystrophy-dystroglycanopathy type A3,-type B3,-type C3. 828 See O-Mannose beta-1,2-N-acetyglucosaminyltransferase Peroxisomal and mitochondrial fi ssion defect , 386 defi ciency Peroxisomal bile acid-CoA amino acid transferase Myoadenylate deaminase defi ciency , 643, 824 (BAAT) defi ciency , 377, 386, 388–389, 396, 556, 557, 563, Myoclonic epilepsy associated with ragged red fi bers , 340, 345, 822 567, 568, 574 Myoclonus-neuropathy syndrome , 402 Peroxisome assembly disorders , 377 Myopathic form of CoQ10 defi ciency (ETFDH) , 235, 239 Peroxisome biogenesis disorders (PBD) , 375, 377, 389 Myopathy lactic acidosis and sideroblastic anaemia , 341, 353 Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) , 323 Peters plus syndrome , 485 PGR defect , 605 N Phenylalanine hydroxylase defi ciency, classic PKU , 4, 5 NAGS defi ciency , 49, 58–61 PHGDH defi ciency , 68 Najman-Imerslund-Gräsbeck syndrome due to AMN , 207 Phosphatidylinositolglycan, class M, defi ciency , 487, 502, 826 Najman-Imerslund-Gräsbeck syndrome (IGS) due to CUBN , 207 Phosphatidylinositolglycan, class V, defi ciency (PIGV-CDG) , 487, Neonatal hemochromatosis , 634, 635, 638, 639 502 Neonatal mitochondrial encephalocardiomyopathy , 104, 106, 112, Phosphoethanolaminuria , 181 126, 128, 129, 132, 136 Phosphoglucomutase 1 defi ciency , 268 Neonatal myoclonic epilepsy due to mitochondrial glutamate carrier Phosphoglycerate dehydrogenase defi ciency , 68, 73, 819 GC1 defect, 87, 91, 93, 95 Phosphomannomutase 2 defi ciency-CDG-Ia , 486, 490 Nephopatic cystinosis. See Juvenile cystinosis Phosphomannose isomerase congenital defects of glycosylation Neuraminidase defi ciency , 437 (MPI-CDG), 484–486, 489, 511 Neurodegeneration with brain iron accumulation 1 , 635, 638 Phosphomannose isomerase defi ciency-CDG-Ib , 486 Neuropathy ataxia and retinitis pigmentosa , 340, 345, 822 Phosphoribosyl pyrophosphate synthetase 1 Niemann-Pick disease defects , 643, 647, 824 type A or B , 402, 405, 413, 424, 426, 446, 729, 786, 792, 827 superactivity , 647, 658, 659 type C1 , 402, 416, 426, 827 Phosphoserine aminotransferase defi ciency , 65, 68, 73, 81, 819 type C2 , 402, 416, 426, 762, 786, 827 Phosphoserine phosphatase defi ciency (PSPH) , Nonketotic hyperglycinaemia , 43, 63, 64, 68, 72, 77, 79–82, 131, 819 65, 68, 74, 81, 819 Non-nephropathic cystinosis , 477 Phytosterolemia , 675 NOT5SL-CDG. See Mannosyltransferase 6 defi ciency - CDG-Id PIGM-CDG , 485, 487, 511 NSDHL defi ciency , 586, 588 PIGV-CDG , 485, 487, 502 PMM2-CDG , 484–486, 489, 511 P5N defi ciency. See -5’-nucleotidase I defi ciency O Polypeptide N -acetylgalactosaminyltransferase 3 defi ciency , 499 OATP1B1 and OATP1B3 disease , 557, 564 POMGNT1-CDG , 484, 485, 487 Occipital horn syndrome , 67, 623–625, 628, 630, 631, 829 Pompe disease , 710, 729, 786, 828 Ocular coloboma with ichthyosis, POMT1-CDG , 487 brain malformations and endocrine abnormalities. POMT2-CDG , 484, 485, 487 See Steroid 5 alpha-reductase 3 defi ciency Porphobilinogen deaminase defi ciency , 542 Oligosaccharyltransferase subunit TUSC 3 defi ciency , 486, 498 Porphobilinogen synthase defi ciency , 28 Optic atrophy 1 and deafness , 340, 347, 822 Porphyria cutanea tarda type I, II and III and hepatoerythropoietic Organic cation carnitine transporter 2 defi ciency , 248, 250, 251 porphyria, 543, 546 Ornithine aminotransferase defi ciency , 530, 532, 728, 819 Porphyria variegata , 543, 544, 547 Ornithine carbamoyltransferase defi ciency , 49 P450 oxidoreductase defi ciency , 587, 596, 599, 605, 611 Ornithine transcarbamylase defi ciency , 49, 51, 728, 739, 818 P protein/T protein/H protein defi ciency , 819 Orotate phosphoribosyltransferase defi ciency , 646 Prenyl diphosphate synthase Orotic aciduria subunit 1 (PDSS1) defi ciency , 235, 237 type I , 643, 650, 658, 659 subunit 2 (PDSS2) defi ciency , 235, 237 type II , 643, 650, 658 Primapterinuria , 4 840 Disorder Index

Primary coenzyme Q10 defi ciency , 235 RFT1-CDG , 484, 486, 489 Primary familial hypoalphalipoproteinemia , 674 Rhizomelic chondrodysplasia punctata Primary hyperoxaluria type 1 (PEX defi ciency) , 385 type I , 467, 468, 820, 828 type 2 , 377, 828 type II , 466–468, 820 type 3 , 377, 828 type III , 467, 469 Ribofl avin-responsive multiple acyl-CoA dehydrogenase defi ciency , resistance , 605, 612 250, 257 Progranulin defi ciency , 403 -5-phosphate isomerase defi ciency , 578 Progressive external ophthalmoplegia (PEO) , 340, 347 Richner-Hanhart syndrome. See Tyrosinaemia type II Progressive familial intrahepatic cholestasis Rogers syndrome , 228, 230 type 1 (PFIC1) , 557 Rotor syndrome , 557, 571, 575 type 2 (PFIC 2) , 557, 825 RPI defi ciency , 578, 582, 583 type 3 , 557, 825 Progressive myoclonic epilepsy type 3 , 403 Prolidase defi ciency , 66, 68, 69, 76, 81, 82, 753, 757, 758, 820 S Proline oxidase defi ciency , 66, 69, 693, 728 S -adenosylhomocysteine (SAHH) defi ciency , 34, 35, 38, Propionic acidemia , 105, 106, 118, 129, 133, 137, 138, 221, 224, 734, 41–45, 728, 758, 819 745–747, 757, 764, 768, 771, 777, 783, 803 Salla disease , 437–440, 442, 445, 446, 786, 791, 813, 828 Propionyl-CoA-carboxylase defi ciency , 105, 106, 777 Sandhoff disease , 401, 403, 404, 409, 424, 426, 431, 786, 789, 806, Prosaposin defi ciency , 402, 407, 827 807, 827 Protective protein/cathepsin A defi ciency , 401, 404 Sanfi lippo disease Protein X defi ciency , 305 A , 450, 453, 455, 786, 827 Proton-coupled folate transporter (PCFT) defi ciency , 169 B, 450, 453, 455, 786, 827 Protoporphyrinogen oxidase defi ciency , 543 C, 450, 453, 455, 786, 827 PSAT defi ciency , 68 D , 450, 453, 456, 786, 827 Pseudocorpus luteum defi ciency. See Progesterone resistance Santavuori-Haltia disease , 402, 827 Pseudo-Hurler polydystrophy , 402, 786 Saposin defi ciency Pseudohypoaldosteronism , 604, 605, 612, 614 A , 401, 411, 426, 431, 827 Pseudovaginal perineoscrotal hypospadia , 605 B, 401, 411, 426, 431, 827 Pterin carbinolamine-4a-dehydratase defi ciency. C, 402, 406, 407, 412, 426, 827 See Primapterinuria Sarcosine dehydrogenase defi ciency , 693 Pulmonary hemosiderosis , 634, 635, 638, 639 Sarcosinemia , 693, 695, 700, 758 phosphorylase defi ciency , 643, 648, 658, 659, SCAD defi ciency. See Short-chain acyl-CoA dehydrogenase (SCAD) 804, 824 defi ciency Pyridoxal 5ʹ-phosphate (PLP) dependent , 181 Scavenger receptor B1 defi ciency (SCARB1) , Pyridoxine-dependent seizures , 701, 829 674, 679, 683, 688, 689 Pyridox(am)ine 5ʹ-phosphate oxidase defi ciency , 181 Schindler disease Pyridoxine-refractory sideroblastic anemia , 341, 353 type I , 439, 441 Pyrimidine-5ʹ-nucleotidase I defi ciency , 643, 650 type II. See Kanzaki disease Pyrimidine 5ʹ-nucleotidase superactivity , 643, 650, 658 type III , 439, 442 Pyroglutamic aciduria , 711, 746, 747 Schneckenbecken dysplasia , 484 Pyrroline-5-carboxylate dehydrogenase defi ciency , 66, 181, 728 SCID. See Severe combined immunodefi ciency (SCID) Pyrroline-5-carboxylate synthase defi ciency , 69, 757, 758 SC4MOL defi ciency. See Sterol C4-methyloxidase-like defi ciency Pyrroline-5-carboxylate synthetase (P5CS) defi ciency , 48, 49, 55, 56, (SC4MOL) defi ciency 58–61, 66, 81 SEC23B-CDG , 483, 484, 488 Pyruvate carboxylase defi ciency , 224, 304, 305, 307, 700, 712, 728, Segawa disease, 3, 4 806, 820 Sensory ataxic neuropathy, dysarthria and ophthalmoparesis , 340, 348, Pyruvate dehydrogenase complex defi ciency 822 E1a , 305, 307 Sepiapterin reductase (SR) defi ciency , 3, 4, 8, 14, 17, 20, 703, 829 E1b , 305, 307 Severe combined immunodefi ciency (SCID) , 169, 172, 643, 656, 728 E2 , 305, 308 SGLT1 defi ciency , 266, 268, 286, 288, 289 E3 , 305, 308 SGLT2 defi ciency , 266, 288 E3 X , 305, 308 Short-chain acyl-CoA dehydrogenase (SCAD) defi ciency , 158, 249, PDHP , 305, 309 693, 697, 704, 728, 772, 777, 779, 783, 821 Pyruvate dehydrogenase E1α subunit defi ciency , 305, 821 Short-chain 3-hydroxyacyl-CoA dehydrogenase defi ciency (13 Pyruvate dehydrogenase E3 binding protein defi ciency , 305, 821 patients), 250 Pyruvate dehydrogenase phosphatase defi ciency , 305, 321 Short chain l -3-hydroxyacyl-CoA dehydrogenase defi ciency , 250, 6-Pyruvoyl-tetrahydropterin synthase defi ciency , 3, 4, 6, 12, 18, 325, 330. See also Short-chain 3-hydroxyacyl-CoA 728, 829 dehydrogenase defi ciency (13 patients) Sialidosis , 437–440, 442, 444–446, 711, 786, 790, 827 Sialuria, Finnish type , 439 R Sideroblastic anemia with marrow cell vacuolization and exocrine RCDP pancreatic dysfunction. See Pearson Syndrome type 1 , 375, 377, 388, 391 Sitosterolemia (ABCG5/ABCG8) , 675, 682, 689 type 2 , 377, 388 SLC25A19. See Bilateral striatal necrosis (SLC25A19) type 3 , 377 SLC35A1-CDG , 484, 487 Refsum disease (classic, adult) , 377, 386 SLC6A3 defi ciency , 517 Renal glucosuria , 265, 266, 268, 274, 293, 743 SLC25A13 defi ciency , 49, 54 Disorder Index 841

SLC33A1 defi ciency with low serum copper and ceruloplasmin , 624, TK2-related mitochondrial DNA depletion myopathy , 341, 653 625, 629 Transaldolase (TALDO) defi ciency , 577, 578, 580, 582, 583, 711, 799, SLC35C1-CDG , 484, 485, 487 800, 820 SLC35D1-CDG , 484, 487 Transcobalamin defi ciency , 207, 210 Sly disease , 450, 453, 458, 460, 463, 710, 711, 827 transcobalamin I (TC I) (TCN1) defi ciency , 207 Smith-Lemli-Opitz syndrome (SLOS) , 585–588, 590, 596, 597, 599, transcobalamin II (TC II) defi ciency , 207, 208, 829 747, 771, 824 transcobalamin III (TCN III), TCN3 defi ciency , 207 Solute carrier family 17 member 5 (SLC17A5) defi ciency , 446 transcobalamin receptor defect , 207, 210, 829 South African porphyria. See Porphyria variegata Transient hyperammonemia of prematurity , 49 Spastic paraplegia 5A , 557 Transient hyperammonemia of the newborn , 47–49, 54, 58–61 Sphingolipid activator protein defi ciency , 400 Trans-prenyl transferase (TPT) defi ciency. See Prenyl diphosphate Sphingomyelinase defi ciency , 402 synthase, subunit 1 (PDSS1) defi ciency Spondylocostal dysostosis type 3 , 484–485 Trifunctional dehydrogenase/cyclohydrolase/synthetase , 169 SRB1 defi ciency , 674 Trimethylaminuria , 693, 695, 699, 711, 744, 799, 830 SRD5A3-CDG , 484, 487, 489, 826 TUSC3-CDG , 483, 484, 486, 489, 826 SSADH defi ciency. See Succinic semialdehyde dehydrogenase Tyrosinaemia defi ciency (SSADH) type I (TYR1) , 23–26, 29–31, 819 StAR defi ciency. See Steroidogenic Acute Response Protein (StAR) type II ((TYR2) , 23–25, 27, 30, 31, 818 defi ciency type III (TYR3) , 23–25, 27, 30, 31, 819 Startle disease, familial, 87 Tyrosine aminotransferase defi ciency , 25, 728 Steroid 5 alpha-reductase 3 defi ciency , 487, 505 Tyrosine hydroxylase defi ciency , 516–518, 828 Steroidogenic acute response protein (StAR) defi ciency , 605 Sterol C5-desaturase defi ciency , 588 Sterol C4-methyloxidase defi ciency , 588, 596, 824 U Sterol C4-methyloxidase-like defi ciency (SC4MOL) defi ciency , 587, Ubiquinone defi ciency , 342, 359 588, 595, 596, 599 UDP-GlcNAc:Dol-P-GlcNac-P transferase defi ciency-CDG-Ij , 486, Sterol 27-hydroxylase defi ciency , 557, 561, 568, 574, 747 494 ST3GAL5-CDG , 485, 487 UDP-GlcNAc epimerase/kinase defi ciency , 487, 504, 826 Stiff-Baby syndrome. See Hyperekplexia due to Gly transporter GLYT2 UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter defect defi ciency , 487, 499 Straight-chain acyl-CoA oxidase defi ciency , 377 UMP hydrolase I defi ciency , 643 Streptomycin ototoxicity , 342 Uncoupling protein defi ciency , 342, 355 Succinic semialdehyde dehydrogenase defi ciency (SSADH) , 65, 69, Uncoupling protein 2 defi ciency , 325, 327 75, 80–82, 152, 153, 710, 828 diphosphate galactose-4-epimerase defi ciency , 266, 268, 277, Succinyl-CoA:acetoacetate CoA transferase defi ciency. See Succinyl- 820 CoA:3-oxoacid CoA transferase defi ciency Uridine-5ʹ-monophosphate hydrolase superactivity , 643, 824 Succinyl-CoA:3-ketoacid CoA transferase defi ciency , 362 synthase defi ciency , 643 Succinyl-CoA:3-oxoacid CoA transferase defi ciency , 361–363, 370, Urocanase defi ciency , 693 710, 711, 744, 746, 821 Uroporphyrinogen cosynthase defi ciency. See Congenital Succinyl-CoA synthetase (SCS) defi ciency erythropoietic porphyria SUCLA2 , 315, 318 Uroporphyrinogen III synthase defi ciency , 542 SUCLG1 , 315, 318 Sulphatase-modifying factor 1 (SUMF1) defi ciency , 402, 405 Sulphite oxidase defi ciency , 33–35, 39–41 V Sulphocysteinuria. See Sulphite oxidase defi ciency van Bogaert-Bertrand disease , 143, 145 Van Bogaert-Scherer-Epstein disease. See Sterol 27-hydroxylase defi cienc T Very long-chain acyl CoA dehydrogenase defi ciency (VLCAD) , Taffazin defi ciency , 106 249–251, 253, 728, 733, 734, 745, 779 TALDO defi ciency. See Transaldolase (TALDO) defi ciency Vitamin B12-responsive homocystinuria, cblE type. See Methionine Tangier disease (ABCA1) , 674, 680, 683, 688, 689, 804, 825 synthase reductase defi ciency-cblE Tarui disease , 820 von Gierke disease , 820 Tay-Sachs disease , 401, 403, 404, 410, 424, 426, 786, 809, 827 V0 subunit a2 of vesicular H(+)-ATPase defi ciency , 488, 508, 826 T cell immunodefi ciency , 498, 643, 648, 650 TCN2 defi ciency. See Transcobalamin defi ciency, transcobalamin II (TC II) defi ciency W TCR/CD320 defect , 207 Wernicke like encephalopathy and BRBG (SLC19A3) , 230 Tentamy preaxial brachydactyly syndrome. See Chondroitin sulfate Wilson disease , 623–626, 630–632, 710, 711, 725, 746, 747, 806, 807, synthase 1 defi ciency 829 Testicular feminization , 605 Wolman disease , 402, 403, 405, 431, 711, 746, 747, 786 TfR2-related hereditary hemochromatosis , 634, 635, 830 Thiamine-responsive megaloblastic anemia syndrome (SLC19A2) , 227–231, 711, 829 X Thiopurine S -methyltransferase defi ciency , 644, 654, 657, 659, 824 Xanthine dehydrogenase defi ciency , 643, 648 THTR1 defi ciency , 229 defi ciency , 649, 659 Thymidine kinase 2 defi ciency , 644, 653, 824 Thymidine phosphorylase defi ciency , 644, 651, 658, 824 type I , 192, 199, 643, 824 Thymine-uraciluria , 644 type II , 192, 194, 643, 824 842 Disorder Index

Xanthurenic aciduria , 693, 744 X-linked mitochondrial myopathy , 341 X-linked adrenoleukodystrophy and adrenomyeloneuropathy , 377, X-linked sideroblastic anaemia (XLSA) , 825 385, 395 X-linked Charcot-Marie-Tooth disease-5, 643 X-linked creatine defi ciency syndrome , 530 Z X-linked cutis laxa, 625 Zellweger spectrum disorders , 375, 377, 383, 386, 393–395, 746, 747, X-linked distal spinal muscular atrophy , 625, 628, 630 828 X-linked dominant protoporphyria , 825 -defi ciency type (AEZ) , 625 Test and Medication Index

A AICAriboside , 647 a 2-Acetamido-N -( l -aspart-4'-oyl)-2-deoxy-β-glucopyranosylamine , AICAR transformylase/IMP cyclohydrolase , 643, 645, 647 443, 444 5-ALA , 26, 546, 547, 549 ABCB11 (bile salt export pump [BSEP]) , 557 5-ALA dehydratase , 545 Acetaminophen-cysteine , 754 Alanine , 50, 55, 92, 93, 124, 134, 230, 278, 288, 305, 307–309, 337, Acetazolamide , 96, 98, 294 339, 355, 367, 376, 726, 746, 750, 751, 753, 756, 757, 796, Acetoacetate , 26, 116, 127, 309, 357, 361, 362, 366–368, 712, 744 797 Acetoacetic acid , 744 Alanine-glyoxylate aminotransferase , 376, 466, 467, 763, 772 Acetone , 116, 361, 744 Alanylproline , 68, 76 Acetyl-CoA 5-ALA synthase 2 , 545 acetyltransferase , 451 Albumin , 20, 38, 238–240, 331–333, 479, 490, 491, 493, 495, 551, alpha-glucosaminide acetyltransferase , 450, 460, 788, 790 553, 559, 560, 563, 580, 623, 627, 653, 770, 779 alpha-N-glucosaminide-N-acetyl transferase , 455 Aldehyde oxidase , 192, 194, 643, 649, 658 synthase family 3 , 106 Aldolase A , 269, 284, 821 Acetylcysteine , 552 Aldose reductase , 5 Acetylglycine , 258 Aldosterone , 602–605, 607–610, 612–614 Acetyl-lysine , 695, 700 ALD protein , 377, 388 Acetylsalicylic acid , 511, 522, 667 Alendronate , 98 Acids Alglucosidase-α , 300 ceramidase , 402, 405, 413 , 20, 180–182, 184, 186, 187, 384, 502, 559–561, lipase , 402, 431, 746, 747 563, 580, 625, 629, 632, 747 sphingomyelinase , 402, 405, 431, 565, 728, 786 Alkyl-DHAP synthase , 377, 380, 382, 385, 388, 389 ACTH , 333, 334, 395, 594, 602, 603, 607–610, 612–615 Allochenodeoxycholic , 566 Acylcarnitines , 104, 108, 111, 123, 126–128, 132, 133, 153, 162, 223, Allochenodeoxycholic acid , 560, 568 234, 239, 240, 242, 247–249, 251, 252, 255, 258–262, 367, Allocholic , 560, 566 368, 699, 700, 712–714, 716, 717, 720, 723, 728, 761, 762, Allocholic acid , 568 768, 770, 772, 775–783 Allo-isoleucine , 108, 728 Acyl-CoA dehydrogenase 9 , 249, 250, 255, 342 , 298, 642, 648, 649, 655, 657–659 Acylglycines , 127, 128, 162, 260, 368, 702, 761, 778, 782 Alpha-amino , 181 Acyl transferase , 671, 675 α-Aminobutyrate, 750, 751 Adenine , 645, 649, 654, 655 Alpha-aminosemialdehyde , 185 Adenine phosphoribosyltransferase , 643, 649, 658, 659, 824 Alpha-fetoprotein , 24, 26, 30, 653, 728 Adenosine , 34, 35, 40, 654, 655 Alpha-galactosidase , 402, 424, 728, 786, 792 deaminase , 643, 645, 648, 658, 659, 724, 824 Alpha-1,4-glucosidase , 268, 281 kinase , 34–36, 40, 41, 758, 824 Alpha-iduronidase , 450, 454, 728 monophosphate , 36 Alpha-keto acid dehydrogenase complex , 104, 106, 124, 228 monophosphate deaminase , 643, 648, 658 Alpha-ketoglutarate , 65, 326, 328 Adenosylcobalamin , 306, 703 Alpha-l -fucosidase , 439, 786, 791 Adenosylhomocysteinase, S -adenosylhomocysteine hydrolase , 35 Alpha-mannosidase , 439, 710, 786, 790, 791, 814 Adenosylhomocysteine , 33, 34 Alpha-N-acetylgalactosaminidase , 437–439, 786, 791 Adenosylmethionine , 33, 34 Alpha-N-acetylglucosaminidase , 455, 460, 786, 788, 790 Adenosyltransferase , 33–37, 41, 206, 207, 693, 697, 703, 728, 758, Alpha-neuraminidase , 409, 439, 786, 791 819 5-Alpha-reductase type II , 605, 610 Adenylosuccinate lyase , 643, 645, 647, 658, 710, 823 Alpha-2,3-sialyltransferase , 487, 502, 826 Adipate , 258 Alpha-tocopherol , 668 Adipic acid , 114, 121, 367, 766, 769 Alpha-tocopherol acetate , 394, 396, 573 Adipic semialdehyde dehydrogenase , 146 Amino acids , 5, 24, 33, 48, 63, 85, 86, 103, 153, 158, 167, 179, 195, Adrenal androgens , 610 206, 223, 229, 234, 251, 265, 304, 314, 328, 338, 361, 377, Agalsidase , 428, 429 405, 446, 476, 515, 533, 556, 617, 653, 661, 672, 693, 710, AICAR , 170, 643, 645, 647, 654, 655, 658, 824 720, 743, 745, 749, 761, 775, 795, 812, 818

843 844 Test and Medication Index

Amino acid transporter , 85–98, 104, 130, 134, 266, 377, 386, 396, B 661, 693, 749, 753, 786, 818, 819 BAAT. See Bile acid-CoA: amino acid N-acyl transferase (BAAT) 2-Aminoadipate , 146, 695 Batylalcohol , 394, 395

2-Aminoadipic semialdehyde synthase , 693, 700 B12 -binding alpha-globulin , 207 Aminoglycoside , 342, 355, 551 BCAA aminotransferase , 106, 107, 128, 129 2-Aminoisobutyrate , 118, 125 Beets , 743 3-Aminoisobutyric acid , 118 Benzoate , 49, 58, 61, 81, 82, 511, 715 5-Aminolevulinate synthase 2 , 542 Beta-alanine , 65, 74, 80, 118, 644, 652, 699, 754, 757 5-Aminolevulinic acid , 26, 541–543, 545, 550 Beta-alanine-2-ketoglutarate transaminase , 644 3-Amino-2-piperidone , 532 Beta-aminoisobutyrate , 652, 751, 754 Ammonia , 47–56, 58–60, 73, 76, 81, 82, 97, 108–111, 113, 114, 116, Beta-aminoisobutyratepyruvate transaminase , 644, 652, 824 119–121, 127, 130–133, 137, 149, 162, 211, 221, 254–256, β-Alanine, 65, 74, 80, 118, 644, 652, 655, 757 279, 282–284, 286, 290, 307, 309, 326, 328, 350, 355, β-Aminoisobutyric acid, 757 366–368, 532, 696, 698, 712–716, 743, 745, 749, 752, 814 Beta-d -glucosidase , 424 Amnionless , 206–208 Beta-enolase , 269, 285, 821 AMP-activated protein kinase , 269, 283 Beta-galactosidase , 401, 403–405, 409, 424, 430, 438, 440, 450, 457, Amylo-1,6-glucosidase , 269, 282 460, 786, 788, 790, 791 Amylopectin , 279 Beta-1,4-galactosyltransferase , 486, 487, 499, 504, 826 Androgen receptor , 603, 605 Beta-glucuronidase , 450, 458, 460, 786, 788–790 Androgens , 602–605, 608–611 Beta-hexosaminidase , 401, 404, 409, 410, 424, 786, 789, 791 Androstenedione , 594, 603, 608, 610, 611, 613–615 11-Beta-hydrosteroid dehydrogenase type 1 , 605 Angiopoietin-like , 674 Beta-hydroxybutyrate , 255, 328 Anion gap , 108–110, 112, 113, 115–117, 119, 120, 211, 221, 368, 11-Beta-hydroxylase I/II , 605 712–714, 752, 761 3-Betahydroxysteroid dehydrogenase , 586, 588, 589, 596, 601, 602, Anserine , 694, 699, 753 605, 608 Anti-Müllerian hormone (AMH) , 611 11-Beta-hydroxysteroid dehydrogenase type 2 , 603, 605 “Antioxidant cocktail,” 639 17-Beta-hydroxysteroid dehydrogenase type 3 , 605, 610 Antithrombin , 504, 552 17-Beta-hydroxysteroid dehydrogenase type 10 , 104, 106, 115 Apo B , 672–674, 676–683 Beta-hydroxysteroid dehydrogenase type II , 605, 608 Apocarboxylases , 220, 223, 224 Betaine , 41, 43, 44, 175, 176, 216, 217, 699, 700, 799 Apolipoprotein Betainehomocysteine methyltransferase (BMT) , 36 A-I , 85, 675, 680, 683, 688, 689 Beta-ketothiolase (BKT) , 104, 106, 125, 126, 129, 132, 137, 361, 362, B , 674, 677, 683, 687 368, 710, 711, 726, 728, 734, 762, 777 C-II , 675, 681, 683, 688, 689 Beta-mannosidase , 437, 439, 786, 791 C-III , 483, 485, 506–509, 511 Beta-ureidopropionase , 644, 646, 652, 824 E , 675 BH4. See (BH4) Apolipoprotein(a) moiety of Lp(a) , 675 d -Bifunctional protein , 375, 377, 382, 387, 389, 394, 557, 568, 828 Aprataxin , 235 Bile acid(s) , 375, 378, 384, 385, 389, 394, 396, 555–576, 585, 629, APTT , 504 672, 687, 688, 711, 754, 824, 825 Arabitol , 578, 580–58, 799 Bile acid-CoA: amino acid N-acyltransferase (BAAT) , 377, 386, d -Arabitol , 579 388–389, 396, 556, 557, 563, 567, 568, 574, 824 Arginase 1 , 49 Bile acid-CoA ligase , 556, 557, 563, 567, 568, 575 Arginine , 51–56, 61, 67, 81, 82, 86, 89, 90, 92, Bilirubin , 24, 276, 277, 279, 284, 285, 317, 384, 386, 509, 556, 93, 108, 156, 529, 535, 537, 539, 715, 559–561, 563, 564, 575, 580, 627, 632, 637, 653, 728, 729, 726, 745, 750–752, 754, 756, 757 732, 744, 825 Argininea , 61 Biocytin , 219, 223 Arginine/glycine amidinotransferase , 529–531, 823 Biopterin , 6–14, 21 Arginine hydrochloride , 60, 61, 216 Biotin , 60, 104, 105, 133, 136, 137, 219–224, 227, 228, 231, 303, 310, Argininemia , 49, 53 702, 710, 711, 716, 771, 829 Argininosuccinate , 51, 52, 55, 56, 58, 59, 752, 754, 757 Biotinidase , 219–224, 228, 280, 282, 283, 287, 702, 710, 711, 716, lyase , 48, 49, 728, 750, 756, 757 724, 726–728, 734, 745, 746, 762, 768, 777, 829 synthetase , 48, 49, 750 Bisphosphonates , 98, 427, 431 Argininosuccinic acid , 57, 71, 726, 745, 755 BKT. See Beta-ketothiolase (BKT) Aromatic l -amino acid decarboxylase (AADC) , 5, 180, 515–517, 522, Botulinum toxin , 155, 200 523, 525–527, 763 Branched-chain , 108, 146, 162, 260, 305, 379, 702, 744, 818 A , 405, 424, 490, 491, 496, 786 Bromocriptine , 20, 526, 527 Arylsulphatase A , 401, 491 Bromsulphthalein , 557, 564 Ascorbic acid , 17–19, 162, 472, 525, 668, 774 Butanone , 744 Asparagine , 75, 92, 440, 484, 751 Butyrylcarnitine , 123, 126, 256, 697, 726, 782, 783 Aspartate aminotransferase, alanine aminotransferase , 746 Butyrylglycine , 258, 697, 704 Aspartate glutamate carrier , 49, 341, 823 Butyryl-/isobutyrylcarnitine , 726 Aspartic acid , 89, 750, 751, 757 Aspartoacylase , 143–145, 151, 154, 763 Atorvastatin , 574, 687 C ATP8B1 (type 4 P-type ATPase) , 557 Cabbage-like odor , 697 ATP-binding cassette , 325 CACT. See Carnitine acylcarnitine translocase (CACT) Test and Medication Index 845

C2 acylcarnitine , 366, 369 C4-DC succinyl-carnitine , 318 C4-acylcarnitine , 117, 162, 704, 782 CD32 receptor , 207 C5-acylcarnitine , 109, 158, 162, 606, 702, 782 Ceramides , 64, 403–407, 426 C5:1 acylcarnitine , 368 Ceruloplasmin , 64, 623–625, 627–630, 636 C6:1 acylcarnitine , 114 C26:0 fatty acid , 384 , 20, 98, 109, 181, 294, 295, 298, 299, 330, 332, 334, 465, Chenodeoxycholic acid , 555, 560, 565–568, 571–574 466, 472, 473, 479, 559, 572, 573, 622, 830 Cherry red spot , 408–410, 413, 442 Calcium (U) , 275–277, 469, 470 Chitotriosidase , 407, 411, 412, 426, 428, 429, 787 Carbamazepine , 81, 82, 91, 96, 98, 431, 446 Chloride , 563, 564 Carbamoyl phosphate, 93 Chlorothiazide , 332, 334 Carbamoyl phosphate synthetase I, 48, 49, 51, 646, 728 Cholesta-8,14-dien-3β-ol , 596 Carbamylglutamate , 47, 58–61 Cholestanehexols , 565, 568 Carbamyl glutamatea , 61 Cholestane pentol glucuronides , 562 Carbidopa , 17, 18, 527 Cholestanepentols , 565, 566, 568 Carbonyl reductase (CR) , 5 Cholestanepentolsc , 566 5-Carboxylate Cholestane terols , 568 Carboxylic acid , 219, 558, 761 Cholestanol , 556, 562, 566, 568, 571, 574 20-Carboxy-LTB4 , 62 8(9)-Cholestenol , 586, 591, 592, 596 4-Carboxymethyl sterol , 592 Cholesterol , 20, 105, 111, 121, 134, 138, 206, 208, 280, 282, 283, 299, Cardiolipin , 111 362, 365, 384, 405, 415, 426, 430, 490, 491, 495, 555–562, Carnitine , 60, 81, 97, 127, 128, 130–133, 137, 144, 153–155, 162, 574, 585–599, 602, 605, 607, 671–673, 679–682, 685–688, 216, 224, 248–252, 258–263, 294, 295, 298, 313, 320, 357, 711, 746, 747, 824, 825, 828 359, 370, 381, 479, 481, 658, 691, 701, 702, 704, 711, 716, Cholesterol 7α-hydroxylase , 555–557, 561, 574, 746, 824 724, 734, 745, 746, 770, 771, 775, 776, 778, 782, 821 Cholesteryl ester transfer , 674, 679, 683, 688, 689 free , 109–111, 114, 116, 117, 135, 136, 138, 199–122, 211, 237, Cholestyramine , 571, 575, 687 239, 248, 252–259, 366, 368, 370, 777 Cholic acid , 394, 565–567, 571–574 palmitoyltransferase , 250, 777, 782 Choline , 41, 116, 168, 171, 174, 176, 380, 699, 799, 812–814 palmitoyltransferase II , 249–251, 253, 728, 745, 779, 821 Chondroitin sulfate , 456, 458 Carnitine acylcarnitine translocase (CACT) , 249–252, 259–263, 726, Chondroitin sulfate synthase , 486 728, 776, 777, 779, 782, 783, 821 Cis-aconitic acid , 767, 769 Carnosinase , 693, 699 C4 isobutyryl-carnitine , 160 Catecholamines , 3, 515–518, 522, 525, 526, 624, 744 C5 isovaleryl-carnitine , 160 Cathepsin Citric acid , 114, 138, 303, 314, 578, 767, 769, 771, 776, 821 A , 401, 404, 409, 438, 786, 791 Citrulline , 50–56, 58, 59, 61, 67, 81, 92, 93, 97, 307, 309, 715, 726, D , 400, 401, 403, 424, 786 745, 750, 751, 755–757 F , 400, 403 Citrullinea , 56 C27-bile acid , 384 Citrullinemia , 715, 746, 750 C4 butyryl-carnitine , 160 Clobazam , 98 C4–C18 acylcarnitines , 237, 239, 257 Clonazepam , 96, 98 C16–C18 acylcarnitines , 252, 253 C5 2-methylbutyryl-carnitine , 160 C2-carnitine , 258, 259 CMP-sialic acid transporter , 487, 504, 826 C4-carnitine , 249, 259 Cobalamins , 41, 43, 45, 105, 205, 207, 208, 215, 217, 710, 711, 723, C5-carnitine , 259 725, 728, 734, 758, 804, 829 C6-carnitine , 259 Coenzyme Q10 , 138, 157, 158, 162, 233–236, 241, 337, 338, 342, C8-carnitine , 259 354, 358, 359 C10-carnitine , 259, 783 COG complex , 826 C10:1-carnitine , 259 C5-OH-acylcarnitine , 110, 111, 114, 367, 368, 696 C12-carnitine , 259 C4OH-carnitine , 259 C12:1-carnitine , 259 C5-OH-carnitine , 222 C14-carnitine , 259 C12OH-carnitine , 259 C14:1-carnitine , 259 C14OH-carnitine , 259 C14:2-carnitine , 259 C16OH-carnitine , 259 C16-carnitine , 259 C16:1OH-carnitine , 259 C16:1-carnitine , 259 C18OH-carnitine , 259 C18-carnitine , 259 C18:1OH-carnitine , 259 C18:1-carnitine , 259 C18:2OH-carnitine , 259 C18:2-carnitine , 259 C4-OH hydroxybutyrylcarnitine , 326 C5–C10 dicarboxylic acids , 257 Colestipol , 687, 754 C16–C18 hydroxyacylcarnitines , 254 Complex V , 106, 338, 341, 343, 823 C6DC acylcarnitine , 114, 367 Copper , 67, 623–632, 829 C5DC-carnitine , 259 Copper-transporting P-type ATPase , 625 C6DC-carnitine , 259 Coproporphyrin I , 548, 549, 564 C8DC-carnitine , 259 Coproporphyrin III , 545, 547–549 C10DC-carnitine , 259 Coproporphyrinogen , 543 C5DC glutarylcarnitine , 145, 150, 153, 160 Coproporphyrinogen oxidase , 543 C4-DC methylmalonyl-carnitine , 123, 126, 318 Coproporphyrins , 545, 546, 548, 549 846 Test and Medication Index

CoQ10 , 162, 233–236, 239, 240, 242, 243, 710, 711, 822 Deoxyadenosine , 648, 654, 655 CoQ6 monooxygenase , 235 Deoxycorticosterone , 607, 609, 613, 614 Cornstarch , 136, 295, 297 11-Deoxycortisol , 609 Corticosterone methyl oxidase , 605, 609 1-Deoxygalactonojirimycin , 429 Cortisol , 288, 332, 584, 602–604, 608, 612, 614, 616 Deoxyguanosine , 642, 644, 645, 653–655, 658, 824 C-peptide , 328 Deoxyinosine , 654, 655 cPMP , 192–194, 197, 198, 200, 201 Deoxythymidine , 170 14C-Propionate , 120 Deoxyuridine , 170, 651, 655 C3 propionylcarnitine , 211, 212, 214 Deprenylb , 20 Creatine , 41, 42, 44, 53, 67, 76, 81, 82, 217, 299, 338, 529–539, 791, Dermatan sulfate , 451, 452, 454, 457, 458, 462, 788, 789 813, 814 D-Erythrose-4-phosphate , 579 kinase , 34, 38, 40, 45, 110, 111, 113, 148, 234, 239, 240, 248, Desmosterol , 586, 587, 589, 593, 595, 596, 598 252–255, 257, 275, 281–286, 299, 300, 349, 354, 355, 357, Dexamethasone , 522, 604, 609, 612, 614, 616 493, 494, 496, 500, 501, 503, 504, 506, 507, 530, 590, 648, Dextromethorphan , 81, 82, 658 653, 700, 747, 778 Dextrometorphan , 43 monohydrate , 537–539 Dextrose , 130–133, 324, 716, 777 transporter , 529, 530, 532, 710, 803, 823 D-Fructose-6-phosphate , 579 Creatinine , 96, 299, 430, 460, 468, 469, 473, 479, 530–532, 534–536, D-Glyceraldehyde-3-phosphate , 70, 579 548, 571, 680, 701, 703, 745, 746, 751–753, 764, 779, 788, D-Glycerate , 278, 287, 289, 297, 466, 467 799, 800 dGuo , 648 Crotonylglycine , 366 DHEA , 594, 602, 608, 610, 611, 613–615 C14:1 tetradecenoyl-carnitine , 253 DHEAS , 608, 610, 611 Cubilin , 206–208 DHEA sulfate , 608 Cu-histidinate , 632 DHPR. See Dihydropteridine reductase (DHPR) C6-unsaturated acylcarnitine , 111 DHT , 603, 610–615 Cyclic pyranopterin monophosphate , 191, 192, 194, D-2-Hydroxyglutaric acid , 66, 147, 150, 257, 260, 763, 764, 806, 818 197, 198, 201 Diazoxide , 263, 323, 330–334 Cyproheptadine , 517, 526, 527 Dicarboxylic , 85 Cystathionine , 33, 37, 39, 40, 696, 702, 753, 754, 756, 757 Dicarboxylic acids , 66, 116, 143, 144, 219, 237, 252, 253, 256, 260, Cystathionine beta-synthase (CBS) , 33–37, 39–41, 43, 45, 195, 196, 261, 368, 384, 764, 772 702, 703, 711, 728, 758, 819 (3-Hydroxy) Dicarboxylic acids , 254, 255, 260, 324, 764, 770, 772 Cystathionine gamma-lyase , 35, 36, 44, 195, 196 (C5–C10) Dicarboxylic acids , 257 Cysteamine , 105, 475–478, 481 Dichloroacetate , 29, 310, 359 Cysteine , 33–36, 41, 43, 96, 97, 105, 191, 192, 195, 400, 405, 620, Dihydrobiopterin , 5, 7, 8, 525 668, 702, 703, 752 7,8-Dihydrobiopterin , 9 dioxygenase , 35, 36, 196 Dihydrofolate , 70, 170 sulphinate decarboxylase , 36 Dihydrofolate reductase , 5, 70, 167–169, 172, 175, 176, 829 Cysteinylglycinase , 618, 661–663, 820 Dihydrolipoyl dehydrogenase , 305, 821 Cysteinylglycine , 620–622, 661, 755 Dihydrolipoyl transacetylase , 305, 821 Cystine , 34, 37, 39–41, 86, 89, 90, 92, 93, 96–98, 191, 192, 195, Dihydroorotate , 655 197–199, 201, 475–482, 535, 620, 700, 745, 750–752, 754, Dihydroorotate dehydrogenase , 643, 646, 650, 824 757 Dihydropteridine reductase (DHPR) , 3–7, 9, 11–13, 16–21, 728, 829 l -Cystine dimethylester , 98 Dihydropyrimidinase , 644, 646, 652, 659, 824 Cystinosin , 475–478, 786 Dihydropyrimidine dehydrogenase , 642, 644, 646, 651, Cytochrome c (Cyt c) , 192, 338, 343 657, 659, 824 Cytochrome c oxidase (COX) , 157, 158, 162, 239, Dihydrotestosterone , 603, 604, 610, 611, 613, 614 240, 342, 354, 358, 624 Dihydrothymine , 652, 655, 769 Cytochrome P450 oxidoreductase , 588, 589, 596, 604 Dihydrouracil , 652, 655, 769 Cytochromome P450 17-alpha-hydroxylase , 605 Dihydroxyacetone , 380 Cytosolic acetoacetyl-CoA thiolase , 362, 365, 821 Dihydroxyacetone phosphate acyltransferase , 377 2,8-Dihydroxy adenine , 649, 654, 655 1,25-Dihydroxycholecacliferol , 573 D 1,25-Dihydroxycholecalciferol , 481, 572, 573 dATP , 648 Dihydroxyphenylacetic acid , 518, 624, 630 Deacylase , 105, 106, 117, 129, 132, 136 Dihydroxyphenylserine , 516, 517, 526 Decadienoylcarnitine, 726 Dimethylglycine , 695, 699, 700, 799 Decanedioate , 258 Dimethylglycine dehydrogenase , 693, 700, 711, 799 Decanoylcarnitine , 726 2,4-Dinitrophenylhydrazine (DNPH) , 122, 124, 128, 743, 744 Decaprenyl , 235, 240, 243 2,4-Dinitrophenylhydrazine test , 108 Decenoylcarnitine , 726, 783 Dino , 648 7-Dehydrocholesterol , 585–590, 596 3 β,7α-diOH-5-cholenoic acida , 566 8-Dehydrocholesterol , 591, 592, 596 Diphenylhydantoin , 96 7-Dehydrocholesterol reductase , 588, 589 Diphosphate , 240, 489 Delta-aminolevulinate dehydratase , 542 2,3-Diphosphoglycerate , 284 δ-Aminolevulinic acid, 757 Disialotransferrins , 509 Delta(4)-3-oxosteroid-5β-reductase, 557 Diversion , 571, 575 Test and Medication Index 847

dl-Dihydroxyphenylserine , 526 Flavin-containing monooxygenase , 693, 699 D-Mannoheptulose , 579 Flippase , 484, 486, 496, 826 DNPH. See 2,4-Dinitrophenylhydrazine (DNPH) Fludrocortisone , 616 Docosahexaenoic acid , 263, 378, 384, 394 Fluoxetine , 81, 98, 552 Dodecanedioate , 258 Fluvastatin , 687 Dodecanoylcarnitine , 726 Folate(s) , 18, 20, 21, 41, 43–45, 69, 167–177, 212, 216, 229, 526, 575, Dodecenoylcarnitine , 726 700, 710, 711, 753, 758, 828, 829 Dolichol , 484, 826 Folic acid , 167, 172, 175–177, 216, 217, 228, 297, 699 kinase , 487, 505 Folinic acid , 17–19, 81, 168, 169, 175–177, 180, 189, 216, 217, 526, phosphate , 489 710, 716, 717 Dol-P-Man utilization , 487, 503 FOLR1 Dopamine , 515–517, 519, 522, 523, 525–527 blocking autoantibodies , 173 beta-hydroxylase , 515–518, 520, 522, 523, 525, 526, 624, 828 transporter , 173 transporter , 515–517, 521 Formiminoglutamic acid (FIGLU) , 171, 172, 174, 693, 694, 698, 699, Dopamine–serotonin , 3, 4, 516, 517, 521, 526 726, 727, 757, 777, 783 D-6-phosphogluconate , 579 Formiminotransferase , 693, 763 D-6-phosphoglucono-d-lactone , 579 Formylglycine generating enzyme (FGE) , 402, 405 D-Ribose , 658 Formyl-5'-phosphoribosyl-5-aminoimidazole-4-carboxamide , 170 D-Ribose-5-phosphate , 579 Formyl-5'-phosphoribosylglycinamide , 170 D-Ribulose-5-phosphate , 579 5-Formyltetrahydrofolate, leucovorin , 18, 169, 526 D-Sedoheptulose , 579 Formyltetrahydrofolate synthase , 169 D-Sedoheptulose-7-phosphate , 579 Free carnitine , 123, 126, 135–138, 248, 258, 259, 262, 366, 368, 370, D-Xylulose , 579 776, 777 D-Xylulose-5-phosphate , 579 Free fatty acids (FFA) , 114, 116, 260, 261, 288, 325–327, 361, 366, 368, 369, 672, 712, 714, 716, 745, 761, 778 Fructokinase , 267, 268 E Fructose , 265–267, 270, 271, 274, 277, 278, 287, 289, 293, 295–297, Elaprase , 461, 462 710, 714, 744–746, 757, 820 Electron transfer fl avoprotein (ETF) , 162, 234, 249–251, 257, 262, fructose-1,6-bisphosphatase , 268, 278, 820 700, 702, 779, 821 fructose 6-phosphate , 484 Elongation factor , 338, 341 fructose-1-phosphate aldolase , 267, 268, 277 Entacapone , 527 Fucose , 440, 487, 489, 501, 504, 511, 826 Entacaponec , 20 Fumarase , 50, 306, 313–315, 317, 319–321, 357, 746, 763, 821 Coenzyme Q10 , 138, 157, 158, 162, 233–236, 241, 337, 338, 342, Fumaric acid , 121, 313, 317, 319, 320, 578, 763, 766 354, 358, 359 Fumarylacetoacetase , 25, 26, 728, 763 Epinephrine , 515–517, 520, 522, 523, 525, 552 Furane-2,5-dicarboxylic acid , 764, 770 Erythritol , 578, 580–582 Furosemide , 130, 332, 552 Erythronic acid , 578, 580–582, 799, 800 Furoylglycine , 767, 770 , 611, 613–615 Estrogen receptor , 605 ETF. See Electron transfer fl avoprotein (ETF) G ETF-ubiquinone oxidoreductase (ETF:QO) , GABA , 63–82, 86, 91, 98, 147, 192, 195, 699, 249, 250, 700, 702, 821 751, 753, 754, 757, 828 Ethanolamine , 380 GABA transaminase , 65, 69, 70, 74, 81, 82, 710, 717, 757, 828 Ethosuximide metabolites , 770 GAGs , 426, 449, 450, 454–460, 464, 787–790 Ethylhydracrylic acid , 696, 702 Galactitol , 267, 275, 276, 287, 292, 296 2-Ethylhydracrylic acid , 111, 115, 116, 123, 125, 368, 765 Galactocerebrosidase , 401, 424, 426, 728 Ethylmalonate , 125, 158 Galactokinase , 266, 268, 276, 287, 728, 744, 820 Ethylmalonic acid , 118, 121, 158, 160, 237, 249, 256, 257, 260, 355, Galactonat , 271 697, 702, 704, 728, 764, 766, 769, 770, 772 Galactose , 54, 265–268, 270, 271, 274–277, 286–289, 293, 295–297, Exostosin , 486, 498 440, 484, 485, 489, 709–711, 714, 726, 732, 743, 744, 820 galactose-1-phosphate , 266–268, 276, 712 galactose-1-phosphate (RBC) , 276, 277, 287 F galactose-1-phosphate uridyltransferase , 276, 728 Fabrazyme , 428 galactose 6-sulfatase , 452 Factor VII and X , 53 γ-Cystathionase, 35, 693, 702 Factor XI , 490, 491, 493, 495–497, 503, 507 γ-Glutamylamino acid, 663 Ferric chloride , 108, 122, 124, 128, 698, 743, 744 γ-Glutamylcysteine , 196, 661–668, 711, 747, 820 Ferritin , 20, 353, 428, 429, 545, 546, 548, 580, 633, 634, 636–639, Gamma-glutamylcysteine synthetase , 196, 661–664, 666–668, 747, 747 820 Ferrochelatase , 543 γ-Glutamyl-P , 71 FFA. See Free fatty acids (FFA) γ-Glutamylphosphate, 66 FGE. See Formylglycine generating enzyme (FGE) Gamma-glutamyl transpeptidase , 556, 559–564, 580, 617–621, FIGLU. See Formiminoglutamic acid (FIGLU) 661–663, 666, 668, 747, 755 Filipin test , 112, 416 Gamma-glutathione synthetase , 664 Fish odor , 693, 695, 699, 700, 711, 797, 799 β-GCase, 406, 407, 427, 428 848 Test and Medication Index

GDP-fucose transporter , 487, 504, 511, 826 all tissues , 281 GDP-Man:Dol-P mannosyltransferase , 487, 503, 826 branching enzyme , 268 GDP-mannose , 484 synthase , 268, 278 Globotriaosylceramide , 406, 407, 412 Glycogenin-1 , 268 Globotriaosylsphingosine , 412 Glycolate , 466, 469–471 Glucagon , 263, 289, 328, 331–334, 552 Glycolic acid , 468, 763, 765, 769, 770, 772 Glucocerebrosidase , 401, 406 Glycosaminoglycans , 404, 414, 415, 426, 449, 450, 787, 788 Glucocorticoid receptor , 604, 605 Glycosylasparaginase , 437, 439, 446, 786, 791 Glucokinase , 325, 330, 711 Glycylproline , 68, 76, 757 Glucose Glyoxylate , 376, 465–467, 472, 820 (-galactose) , 268 GM2 activator , 401, 403, 404, 409, 410 -6-phosphatase , 268, 280 GM3 ganglioside , 502 -6-phosphate , 728 GMP-lipoate , 69 -6-phosphate Golgi-microtubule-associated protein , 488, 508 dehydrogenase , 577, 662, 667, 668, 726, 728 Gonadotropins , 295, 610, 611, 615 translocase , 268 GTPCH activity , 6 transporter-1 , 265, 266, 268, 274, 293–295 GTP cyclohydrolase I , 3–5, 12, 18, 728 Glucosidase 1 , 484, 486, 497, 826 Guanidinoacetate , 529–534, 536, 814, 815 Glucosyltransferase , 427, 484, 486, 487, 491, 493, 501, 826 Guanidinoacetate methyltransferase , 530, 531, 814, 823 Glucotetrasaccharides , 281 , 489, 654, 655, 829 Glucuronate sulfatase, 451 β-Glucuronidase, 450, 458, 460, 786, 788–790 GLUT1 , 266, 268, 270, 274, 286, 288, 290, 292, 294, 710 H Glutaconic acid , 146, 148 Haemoglobin , 293, 296, 580 Glutamate , 48, 50, 58, 66, 67, 86, 87, 91–93, 95, 96, 119, 180, 194, Haptocorrin , 207–209, 829 195, 249, 305, 330, 341, 617, 662, 693, 694, 698–700, 715, Haptoglobin , 497 751, 752, 777, 783, 812, 813, 819, 823 Hawkinsin , 25, 27–29, 757 aspartate transporter , 86, 87 HCS. See Holocarboxylase synthetase (HCS) dehydrogenase-1 , 325 Hemoglobin (Hb) , 8, 9, 172, 230, 287, 428, 639, 658, 664, 665, 668, transporter , 85–87, 90 728, 743, 747 Glutamic acid , 54, 89, 184, 309, 698, 726, 750, 751, 757, 771 Hemojuvelin (HJV) , 634, 635 Glutamine , 48–56, 58, 59, 61, 66, 92, 93, 119, 120, 134, 305, 309, Heparan-N-sulfatase , 450, 455, 460, 786, 788–790 667, 715, 726, 750–752, 756, 757, 763, 770, 800, 812–814, Heparan sulfate (HS) , 450, 451, 454–456, 458, 460, 462, 788, 789 819 Hepatic triglyceride , 674 Glutamine synthetase , 47–49, 54, 757 Hepatocyte nuclear factor 4A , 325, 327, 330 Glutarate , 144, 153, 258, 701 Hepcidin , 634, 635 Glutaric acid , 114, 121, 148, 150, 151, 237, 239, 240, 260, 701, 763, Heptacarboxyporphyrin , 545, 549, 550 768–771 Heptacarboxyporphyrinogen , 543 Glutarylcarnitine , 144, 146, 148, 150, 153 Hexacarboxyporphyrin , 549 Glutaryl-CoA Hexacarboxyporphyrinogen , 543 dehydrogenase , 144–146, 153, 249, 763, 771, 777 Hexanoylcarnitine , 726 oxidase , 376, 693, 701, 763, 771 Hexanoylglycine , 249, 256–258, 260, 764 Glutaryl-/OH decanoylcarnitine , 726 Hexasialotransferrins , 509 Glutathione , 25, 195, 239, 477, 559, 617, 618, 620, 622, 650, Hexosaminidase , 401, 403 661–668, 745 β-Hexosaminidases A and B, 404 Glutathione synthetase , 196, 661–667, 702, 703, 728, 746, 820 5HIAA. See 5-Hydroxyindoleacetic acid (5HIAA) Glyceraldehyde , 578 High-density lipoprotein (HDL) cholesterol , 671, 672, 676–682, 686 l -Glycerate , 469, 470 Hippuric acid , 537, 744, 769 D -Glycerate dehydrogenase , 466, 467 Histidase , 693, 694, 698 Glycerate kinase , 267–269, 278 HJV. See Hemojuvelin (HJV) D -Glycerate kinase , 278, 287, 297 HMG-CoA. See 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Glyceric acid , 466, 763, 766 HMGL. See 3-Hydroxy-3-methylglutaryl-CoA lyase (HMGL) Glycerol , 277, 278, 380, 672, 696, 703, 763, 766, 769, 820 HNF1A , 325, 327, 331 kinase , 693, 703, 745–747, 763, 820 HNF4A , 325, 330 triacetate , 154, 156 Holocarboxylase synthetase (HCS) , 219–223, 228, 702, 710, 711, 716, Glycine , 36, 49, 59, 63–82, 86–88, 92, 93, 98, 108, 109, 116, 119, 734, 746, 762, 829 120, 122–124, 131, 135, 162, 181, 186, 192, 224, 257, 278, Holotranscobalamin , 205, 208–210, 212–215 368, 529–531, 537, 555, 556, 565, 566, 617, 634, 694, 697, Homoarginine , 156, 757 698, 700, 703, 704, 710, 715, 726, 728, 750–752, 756, 757, Homocarnosine , 69, 74, 694, 699, 758 771, 819, 823 Homocitrulline , 52, 53, 55, 56, 58, 695, 700, 753, 756, 758 Glycine cleavage , 63, 68, 77, 180 Homocysteine-cysteine , 172 Glycine N-methyltransferase , 33–35, 38, 703, 728, 758, 819 Homocysteine/homocyst(e)ine (Hcy) , 33–35, 37–41, 43, 168–172, Glycocholic acid , 396 174, 176, 197, 198, 201, 205, 206, 208–214, 216, 320, 697, Glycocholic acidb , 574 699, 703, 743, 745, 751–755, 758, 771 Glycogen , 114, 265–270, 272, 273, 275, 278–287, 289–293, 295–300, Homocystinuria , 33–35, 169, 205–207, 210, 217, 667, 710, 711, 724, 304, 324, 331, 332, 367, 714, 745, 746, 786, 820, 821 725, 734, 739, 743, 745, 753, 804, 811 Test and Medication Index 849

Homogentisate 1,2-dioxygenase , 25 7 α-Hydroxy-3-oxo and 7α, 12α-dihydroxy-3-oxo-4-cholenoic acids, Homogentisic acid , 743, 744, 763, 770, 800 560 Homovanillic acid (HVA) , 5–9, 14, 16, 21, 172, 174, 181, 185, 187, 4-Hydroxy-2-oxoglutarate , 467 516–523, 525, 767, 769, 770 4-Hydroxy-2-oxoglutarate aldolase , 467 HS. See Heparan sulfate (HS) 4-Hydroxyphenylacetate , 26, 27, 29, 745 5HTP. See 5-Hydroxytryptophan (5HTP) 4-Hydroxyphenyllactate , 26, 27, 29, 745 HVA. See Homovanillic acid (HVA) 4-Hydroxyphenylpyruvate , 23, 26, 27, 29, 745 Hyaluronan , 458, 788 4-Hydroxyphenylpyruvate dioxygenase , 23–26, 28, 728, 763, 819 Hyaluronidase , 450, 458, 460, 786, 788, 790 4-Hydroxyphenylpyruvate hydroxylase , 25 Hydantoin-5-propionic acid , 694, 699, 763 p-Hydroxyphenylpyruvic acid , 744 Hydrochloride , 60, 61, 429, 517, 526, 527, 537 Hydroxyproline , 68, 71, 79, 80, 185, 186, 472, 694, 697, 698, 751, Hydrocortisone , 615, 616 752, 755, 758 Hydrogen carrier protein (H-protein) , 63, 64, 68, 819 Hydroxyproline oxidase , 693, 698 Hydrogen sulfi de , 195, 744 3-Hydroxypropionic acid , 66, 118–120, 125, 205, 211–214, 221, 222, Hydroxo-Cbl , 210, 216, 217 762, 769, 770 Hydroxocobalamin , 43, 175, 716 Hydroxypyruvate , 467 2-Hydroxyadipate , 695 3 β-Hydroxysteroid 3-Hydroxyadipate , 258 delta8, delta7-isomerase , 588 4-Hydroxybenzoate-polyprenyltransferase , 235 delta14-reductase , 588, 589, 596 Hydroxybutyrate , 294, 295 delta24-reductase , 586, 588, 589, 596 3-Hydroxybutyrate , 127, 258, 262, 263, 288, 355, 357, 712 3-Hydroxysuberate , 258 3-Hydroxybutyric acid , 121, 763 5-Hydroxytryptophan (5HTP) , 4, 17–20, 516, 518, 519, 522, 523, 525, 4-Hydroxybutyric acid , 63, 66, 75, 79, 80, 763 526 Hydroxybutyrylcarnitine , 256, 326, 328, 330 25-Hydroxy- , 560, 562 3 β-Hydroxy-5-cholenoic acids, 561, 565, 567, 568 Hyperammonemia , 47–61, 67, 85, 94, 96, 97, 104, 105, 127, 128, 130, 3 β-Hydroxy-5-cholestenoic acid, 561, 568 132, 133, 136, 138, 143, 221, 248, 700, 710, 712, 714–715, 27-Hydroxycholesterol , 556, 558, 561, 568 740, 745, 746, 749, 752, 778 7 α-Hydroxycholesterol dehydrogenase , 560 Hyperammonemia-hyperornithinemia-homocitrullinuria , 49 Hydroxycobalamin , 60, 133, 137, 703 Hyperinsulinism , 48, 249, 256, 263, 323–334, 580, 710, 712, 714, 4-Hydroxycyclohexanecarboxylic acid , 763, 770 745, 754 3 β-Hydroxy-D5-C27-steroid dehydrogenase/isomerase , 557, 559 Hypogalactosylation Tf glycans , 504 3-Hydroxydecanedioate , 258 Hypoglycosylated glycoproteins , 494 3-Hydroxydicarboxylic acid , 254, 255, 326, 764, 770, 772 Hypotaurine , 35, 36, 191 3-Hydroxydodecanedioate , 258 Hypoxanthine , 191, 199, 201, 647–649, 654, 655 3-Hydroxyglutarate , 144, 153, 256, 326, 328, 330 Hypoxanthine-guanine phosphoribosyltransferase , 643, 645, 649, D -2-Hydroxyglutarate dehydrogenase , 145, 249, 818 658, 659 l -2-Hydroxyglutarate dehydrogenase , 145 Hydroxyglutaric acid, 66, 147, 149, 150, 154, 257, 260, 710, 763, 764, 769, 771, 772 I 3-Hydroxyglutaric acid , 148, 150, 151, 249, 695, 763, 764, 772 Idebenone , 242, 243 5-Hydroxyindoleacetic acid (5HIAA) , 5–9, 14, 16, 21, 172, 174, 185, Iduronate sulfatase , 451, 452, 788 516–523, 525, 770 Iduronate 2-sulfatase , 450, 454, 460, 786, 789, 790, 792 3-Hydroxyisobutyrate dehydrogenase , 105, 106, 117, 129, 132, 136, IGF1 , 492 762, 771 Imidazole pyruvic acid , 694, 698 3-Hydroxyisobutyric acid , 117, 118, 762, 771 Immunoglobulin(s) , 78, 171, 492, 497, 552, 590, 648 3-Hydroxyisobutyryl-carnitine , 117 Indomethacin , 481 3-Hydroxyisobutyryl-CoA , 105, 762 Inosine , 642, 654, 655, 824 3-Hydroxyisobutyryl-CoA deacylase , 105, 106, inosine-5'-triphosphate pyrophosphohydrolase , 644 117, 129, 132, 136 monophosphate dehydrogenase , 643, 645, 648, 658 2-Hydroxyisovaleric acid , 117, 123, 762 , 168, 171, 174, 176 3-Hydroxyisovaleric acid , 109–112, 114, 123, 125, 221, 696, 702, Insulin , 59, 130, 131, 133, 135, 249, 263, 266, 288, 295, 299, 323, 744, 762, 769–771, 798 324, 328, 330–334, 481, 551, 552, 686, 712, 715, 716 3-Hydroxykynurenine , 695, 701 Insulin receptor , 325, 331 27-Hydroxylase , 557, 558, 561, 562, 567, 568, 747 Interlipid(s) , 130

20-Hydroxy-LTB4 , 620 Intrinsic factor , 206–209, 829 Hydroxylysine , 144, 146, 758 Iron , 20, 98, 340, 346, 348, 550, 551, 553, 623, 633–639, 822, 830 3-Hydroxy-2-methylbutyric acid , 368, 369 Iron transport protein , 635 3-Hydroxy-3-methylglutaric acid , 114, 123, 124, 367, 762, 766, 769 Isobutyryl-CoA dehydrogenase , 104, 106, 117, 132, 136, 728, 762, 3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) , 361, 431, 576 777, 779 3-Hydroxy-3-methylglutaryl-CoA lyase (HMGL) , Isobutyrylglycine , 117, 123, 125, 258, 696, 702, 762, 766 57, 106, 114, 361, 362, 367, 369, 370, 711, 745, 746, 762, Isocitrate dehydrogenase 2 , 145, 763 768, 769, 771 Isocoproporphyrin , 545, 546, 550 3-Hydroxy-3-methylglutaryl-CoA synthase 2 , 362 Isoleucine , 92, 93, 103–139, 305, 308, 328, 362, 366, 368, 369, 702, 4-Hydroxy-6-methyl-2-pyrone , 366, 367 726, 728, 750, 751, 756, 758, 762, 782, 798 3-Hydroxy- n -butyric acid , 109–112, 114, 116, 119, 121, 148, 211, Isovaleric acid , 109, 123, 744 212, 222, 326, 366, 368, 695, 696 Isovaleryl-CoA dehydrogenase , 104, 106, 109, 762, 777 850 Test and Medication Index

Isovalerylglycine , 109, 123, 124, 160, 162, 258, 702, 762, 766 Lipids , 45, 63, 114, 132, 229, 233, 234, 239, 240, 266, 294, 394, 395, Isovaleryl-/2-methylbutyrylcarnitine , 726 399, 400, 405, 556, 561, 587, 602, 617, 618, 642, 668, 671–673, 678, 685–687, 761, 785, 799, 812, 825 lipid-linked Glc1Man9GlcNAc2 , 493 K lipid-linked GlcNAc2 , 494 Keppra , 770 lipid-linked Man7GlcNA2 , 492 Keratan sulfate , 408, 451, 456, 457, 788, 789 lipid-linked Man5GlcNAc2 , 491, 496, 503 Ketoacidosis , 104, 105, 107–110, 113, 115–117, 119–121, 124, 304, lipid-linked Man9GlcNAc2 , 491, 494, 503 311, 331–332, 361, 367, 370, 703, 744 lipid-linked Man3GlcNAc2 and Man4GlcNAc2 , 495 3-Ketoacyl-CoA , 250, 255, 728 lipid-linked oligosaccharides (LLO) , 485, 505, 509, 511 2-Ketoglutarate dehydrogenase , 64, 306, 693, 701, 745, 746, 763 Lipoic acid , 82, 294, 304, 311, 359 Ketohexokinase , 277 Lipoprotein , 333, 576, 671–689, 825 Ketones , 104, 114, 116, 119–121, 127, 128, 131–134, 143, 247, 248, Lipoprotein lipase (LPL) , 672, 675, 681, 683, 685, 686, 688, 689, 747, 251–257, 260, 278, 280, 282, 283, 288, 292–295, 297, 811, 825 307–310, 316, 325–328, 361–370, 657, 694, 712–714, 716, Lithium citrate , 144, 154, 156 732, 733, 745, 771, 772, 821, 743744 L-methylmalonyl-CoA , 206, 703 Kuvan , 10, 20 Long-chain acylcarnitines , 240, 248, 252, 255, 261, 262, 354, 366, Kynureninase , 693, 701, 702 716, 776, 777, 779, 782 Kynurenine , 695, 701 Long-chain enoyl-CoA hydratase (LCEH) , 250, 251 Long-chain 3 hydroxyacyl-CoA dehydrogenase (LCHAD) , 248–251, 254, 259–263, 710, 711, 726, 728, 740, 745–746, 764, 777, L 779, 782, 783 Lactate , 50, 91, 93, 109, 111–113, 115–117, 119–121, 123–125, Long-chain 3-ketoacyl-CoA thiolase , 250, 255 131–134, 143, 149, 157, 158, 160, 162, 180, 185, 211, 222, Lorenzo’s oila , 394, 395 230, 238–240, 252, 263, 265, 274, 278–280, 282–284, 286, Lovastatin , 576, 687 288–290, 296, 297, 299, 303, 305–310, 313, 316–318, 320, Low-density lipoprotein (LDL) 330, 337, 339, 341, 344–355, 357, 359, 367, 368, 386, 495, cholesterol , 405, 671–673, 676–679, 681, 682, 686, 687 525, 651, 653, 691, 712–714, 716, 728, 746, 796, 797, 812, receptor , 674, 825 813, 823 receptor associated protein , 674 Lactate dehydrogenase (LDH) , 50, 172, 269, 286, 290, 357, 747, 821 LPL. See Lipoprotein lipase (LPL)

Lactic acid , 221, 223, 287–289, 319, 320, 712, 762, 763, 765, 769, L T B4 , 617, 618, 620, 621 770, 796, 797, 799 L T C4 , 617–621 Lactic acidosis , 64, 113–115, 131, 132, 136, 138, 160, 162, 181, 227, L T D4 , 617, 618, 621 228, 234, 235, 238, 254, 255, 267, 303–305, 307–309, 314, L T E 4 , 617, 618, 620, 621 316–318, 340–342, 346, 353, 354, 358, 359, 634, 638, 664, Lumizyme , 300 716, 744, 757, 822, 823 Lyase , 601, 603–605, 610 Lactosylceramide , 502 Lysine , 55, 86, 89, 90, 92, 93, 97, 144–146, 149, 154–156, 180, 183, Lamotrigine , 81, 82, 431 189, 219, 220, 309, 314, 376, 478, 532, 535, 537, 539, 695, Lanosterol , 587, 588, 596 700, 701, 726, 750, 751, 754, 758, 763, 776, 819 Lanosterol 14-alpha demethylase , 588 Lysosomal export of cobalamin , 206 L-arginine hydrochloride , 60, 216 Laronidase , 461, 462 Lathosterol , 586, 587, 593, 595, 596 M L-carnitine , 97, 103, 126, 132, 133, 135–138, 155, 216, 217, 263, 370, Magnesium transporter , 484, 486, 498 716, 779, 782 Malate dehydrogenase , 50, 306 L C A T . See Lecithin-cholesterol acyl transferase (LCAT) Malic acid , 121, 147, 766 LCAT activity , 680, 685 Malonic acid , 121–123, 125, 763, 765 LCEH. See Long-chain enoyl-CoA hydratase (LCEH) Malonic semialdehyde , 70 LCHAD. See Long-chain 3 hydroxyacyl-CoA dehydrogenase Malonylcarnitine , 121–123, 126, 726, 783 (LCHAD) Malonyl-CoA decarboxylase , 105, 106, 121, 728, 746, 763, 771, 821 LDH. See Lactate dehydrogenase (LDH) Malonyl-/OH octanoylcarnitine , 726 L-Dopa , 4, 14, 17–20, 446, 516, 517, Mandelic acid , 766, 770 519, 520, 522, 523, 525–527 Mannoheptulose , 578, 580–582 L-Dopa Carbidopa , 4, 17–20, 526 Mannose , 405, 406, 483, 484, 487, 501, 511, 826 Lecithin-cholesterol , 672, 675 Mannose 1-phosphate , 489 Lecithin-cholesterol acyl transferase (LCAT) , 672, 675, 680, 683, 685, Mannose 6-phosphate , 405, 406, 511 686, 688, 689, 711, 747, 825 Mannosyltransferase , 484, 486, 487, 491–495, 500, 503, 826 Leucine , 92, 93, 103–139, 221, 249, 305, 308, 323, 324, 326, 328, MAO-A , 516, 517, 520, 522, 523, 525–527 330, 361, 362, 366, 367, 369, 702, 710, 726, 750, 751, 755, Medium-chain acyl CoA , 153, 234, 239, 249–251, 256, 724, 728, 734, 756, 758, 762, 771, 782 745, 764, 777, 779, 821 Leukotriene C4 synthase , 618, 619 Medium-chain and long-chain acylcarnitines , 366 Leukotriene E4 , 590 Medium-chain dicarboxylic acids , 326 Levodopa , 17, 515, 516, 526, 527 Melanin , 744 L-2-hydroxyglutaric acid (L2HG) , 144, 145, 147, 149, 150, 152, 153, Melatonine , 20 763 3-Mercaptolactatecysteine disulfi de , 745 Lipase , 299, 402, 405, 415, 426, 431, 679, 685, 746, 747, 786 α-Mercaptopropionylglycine , 97 Test and Medication Index 851

Metanephrine , 518, 520, 522, 523, 525 5-Methyl-THF , 73, 167, 168, 171, 172, 175, 177 Methacrylic acid conjugates , 117 e 4-Methylumbelliferyl-α- d -mannopyranoside , 443 Methacrylic aciduria , 105, 106, 818 c 4-Methylumbelliferyl-α- l -fucoside , 443 Methemoglobin , 743 g 4-Methylumbelliferyl-α-N-acetylgalactosaminide , 443, 444 Methenyl-tetrahydrofolate cyclohydrolase , 169, 170 h 4-Methylumbelliferyl-α-neuraminide, 443 5,10-Methenyltetrahydrofolate synthetase , 169 f 4-Methylumbelliferyl-β- d -mannopyranoside , 443 Methionine , 24, 26, 33–45, 54, 92, 93, 105, 114, 118, 122, 138, 168, Metronidazole , 133, 137, 157, 158, 162 169, 172, 174–176, 191, 195, 196, 205–207, 211–216, 529, Mevalonate , 239 697, 699, 703, 711, 716, 723, 726, 728, 744, 747, 750, 751, Mevalonate kinase , 585, 586, 588–590, 596, 762, 770, 824 758, 776 Mevalonic acid , 586, 590, 595, 596, 762, 766, 768, 770 adenosyltransferase , 33–37, 41, 695, 697, 703, 728, 758, 819 Mevinolin , 576 sulfoxide , 697, 758 MHPG , 518–520, 523, 525 synthase, 5-methyltetrahydrofolate-homocysteine Microsomal triglyceride transfer protein , 674 methyltransferase, 207 Midazolepyruvic acid , 744 synthase reductase, 5-methyltetrahydrofolate-homocysteine Miglustat , 407, 427–431 methyltransferase reductase, 207 Mineralocorticoid , 599, 601–605, 609, 616 , 18, 19, 754 Mitochondrial deoxyguanosine kinase , 644 3-Methoxy-4-hydroxyphenylglycol , 518, 523, 528 Mitochondrial ribonucleotide reductase , 644, 653 3-Methoxytyramine , 518, 520, 522, 523, 525 Monoamine oxidase A , 515–517, 520 3-Methoxytyrosine , 181, 185, 187 Monocarboxylate transporter 1 , 325 2-Methylacetoacetate , 368, 369, 744 Monophosphate , 36, 50, 170, 191, 192, 194, 197, 198, 201, 228, 577, 2-Methylacetoacetic acid , 116 643, 645, 648, 658, 824 Methylacetoacetyl-CoA thiolase , 361, 362, 366, 368–370 Monosialotransferrins , 509 α-Methylacyl-CoA racemase , 377, 384, 387, 394, 556, 557, 562, 568, 5MTHF , 8, 169, 172–177 574, 828 Muscle glycogen phosphorylase , 269 4-Methyl and 4,4-dimethyl sterols , 592, 593, 595 Myocytes , 281 2-Methylbutyric acid , 115 Myoglobin , 279, 282–286, 300, 747 2-Methylbutyrylcarnitine , 115, 726, 782 Myozyme , 300 2-Methylbutyryl-CoA dehydrogenase , 104, 106, 115, 699, 702, 762 2-Methylbutyrylglycine , 115, 123, 125, 160, 162, 696, 702, 762 Methylcitric acid , 119, 120, 205, 211–214, 222, 725, 762, 767, 771 N Methylcobalamin , 36, 169, 172, 175, 177, 206–208, 211, 212, 829 NaBicarbonate , 130, 131, 133 3-Methylcrotonic acid , 744 N-Acetyl-alpha-dglucosaminidase , 450 3-Methylcrotonylcarnitine , 110 N-acetylaspartate , 65, 73, 87, 91, 93, 111, 114, 119, 120, 144, 146, Methylcrotonyl-CoA carboxylase , 106, 110, 219, 221, 224 151, 153, 154, 363, 812 3-Methylcrotonyl-CoA carboxylase , 104, 128, 129, 221, 224, 693, N-acetylaspartic acid , 143, 148, 150, 763, 767, 769 702, 728, 734, 747, 762, 771, 777, 804 N-acetylcysteine , 42, 157, 158, 162, 583, 661, 662, 667, 668, 764 3-Methylcrotonylglycine , 110, 114, 135, 221–224, 367, 696, 702, 762, N-acetyl galactosamine , 295, 487, 499 767, 771 N -Acetylgalactosamine-4-sulfatase , 450, 457, 460, 786, 788, 790, 792 Methylene-tetrahydrofolate , 63, 65, 69, 172 N -Acetylgalactosamine-6-sulfatase , 438, 450, 456, 786, 788–790, 792 5,10-Methylenetetrahydrofolate dehydrogenase , 169 N -Acetylgalactosaminyltransferase , 486, 499, 826 5,10-Methylenetetrahydrofolate reductase , 169 N -Acetylglucosamine-1-phosphotransferase , 402, 405, 786, 791 3-Methylglutaconic acid , 111–114, 123, 124, 349, 351, 352, 355, 367, N -Acetylglucosamine-6-sulfatase , 450, 456, 786, 788–790 762, 766, 771, 799 N-acetylglucosaminidase , 455, 460, 786, 788, 790 Methylglutaconic aciduria , 104, 106, 110, 113, 128, 129, 131, 132, N -acetylglucosaminyltransferase , 484, 486, 487, 496, 501, 826 136, 728, 745–747, 762, 777, 799, 818 N -acetylglutamate synthase , 48, 49, 51, 715, 818 3-Methylglutaconyl-CoA hydratase , 104, 106, 111, 128, 129, 771, 777 N -Acetyl-l -glutamate , 50 3-Methylglutaric acid , 104, 106, 111, 113, 114, 121, 124, 128, 129, Naglazyme , 461, 462 131, 132, 136, 367, 762, 766, 771 N -butyl deoxynojirimycin , 427, 429 Methylglutarylcarnitine , 726 N -Carbamoyl-β-alanine, 652, 655 3-Methylhistidine , 699, 751 N -Carbamoyl-β-aminoisobutyrate, 655 2-Methyl-3-hydroxybutyric acid, 111, 116, 728, 762, 765, 818 N -Carbamoyl-β-aminoisobutyric acid, 652 2-Methyl-3-hydroxy-butyrylcarnitine , 115, 116 N -Carbamylglutamate , 49, 60, 133, 715 Methylmalonate semialdehyde dehydrogenase , 105, 106, 118, 125, Neopterin , 6–9, 12–14, 21, 525 129, 132, 136, 751, 771, 818 Neuronal glycine transporter , 86, 87 Methylmalonic acid, 120–122, 128, 169, 172, 205, 206, 208–213, 215, Neutral amino acids , 86–89, 755, 757 314, 318–320, 352, 697, 703, 725, 744, 762, 763, 765, 768–771 Neutropenia , 104, 109–111, 116, 118, 120, 133, 136, 280, 298, 317, Methylmalonic semialdehyde dehydrogenase , 762 332, 511, 628, 711, 747 Methylmalonylcarnitine , 120, 726, 783 , 574, 687, 701, 754 Methylmalonyl-CoA epimerase , 693, 697, 703–704, 762, 818 Nicotinamide , 96, 97, 251, 701 Methylmalonyl-CoA mutase , 105, 106, 120, 206, 215–217, 703, 716, Nifedipine , 332, 334 728, 734, 818 Nitisinone , 23, 24, 26, 30, 31 Methylsuccinate , 258 Nitric oxide synthase , 3, 50 Methylsuccinic acid , 160, 162, 697, 704, 764, 766 Nitrogen scavenger , 47–49, 59 5-Methyltetrahydrofolate , 14, 18, 36, 44, 65, 176, 207, 208, 526 b p-Nitrophenyl-α- l -fucopyranoside , 443, 444 5-Methyltetrahydrofolatehomocysteine methyltransferase , 36 27-Nor-cholestanepentol(s) , 565, 568 852 Test and Medication Index

Norepinephrine , 51–517, 519–523, 525, 624, 630 P Normetanephrine , 520, 523, 525 Palivizumab , 300 Normosang , 551 Palmitoyl protein thioesterase , 400–402, 424 NPC1 protein , 402, 786 Palmitoyl protein thioesterase-1 , 402 O Panhematin , 551 Octanoylcarnitine , 256, 259, 726, 727, 770, 777, 780–783 Pantothenate kinase , 635, 829 Octanoyl-mtACP , 69 P450 aromatase , 605 OCTN2. See Organic cation carnitine transporter 2 (OCTN2) P450 11-beta-hydroxylase type 1 , 605 Octreotide , 328, 331–334 PBG. See Porphobilinogen (PBG) O-Fucose-specifi c beta-1,3-Nacetylglucosaminyltransferase , P5CS. See Pyrroline-5-carboxylate synthetase (P5CS) 487, 501, 826 PEG-ADA , 658 OH butyrylcarnitine , 726, 782 , 657 OH hexadecenoylcarnitine , 726 Penicillamine , 97, 631, 754, 756, 766 OH isovalerylcarnitine , 368, 726, 727, 777, 780–782 d -Penicillamine , 94, 632 5-OH-Me- , 355 Pentacarboxyporphyrin , 549 OH palmitoylcarnitine, 726, 727, 777, 780–783 Pentacarboxyporphyrinogen , 549 17-OH-pregnenolone , 594, 608 Pentasialotransferrins , 509 17-OH-progesterone , 594, 608–611, 614, 615 Peptidase D , 68, 69, 617, 618, 620–622, 661, 662, 747, 755 Oligosaccharides , 288, 295, 297, 399, 408–410, Pergolide , 526 414, 415, 426, 437, 438, 440, 445, 446, 450, 484, 485, 505, Peroxins , 377, 382 509, 511, 787–790 Peroxisomal acyl-CoA oxidase 1 , 375, 383, 387, 393, 395, 828 Oligosaccharyltransferase , 484, 486, 498 Perseitol , 578, 580–582 O-Mannose beta-1,2-Nacetyglucosaminyltransferase , 487 Persulphide , 159 O-Mannosyltransferase , 487, 500, 826 Phe loading test , 7, 8, 14 3-O-Methyldopa , 516, 518–520, 522, 523, 525, 526 Phenobarbitone , 180, 575 OPA3 protein , 106 , 743 Organic cation carnitine transporter 2 (OCTN2) , 248, 250, 251, 258, Phenothiazines , 90, 551, 744 259, 261–263 Phenylacetic acid , 744, 763 Ornithine , 48, 50, 53, 55, 56, 58, 61, 81, 82, 85, 86, 89, 90, 92, 93, Phenylalanine , 3–21, 24, 29–31, 92, 93, 720, 725, 726, 728, 743, 750, 529, 530, 532–538, 715, 726, 750–752, 758, 819 751, 758, 763, 818 aminotransferase , 50, 57, 67, 530, 728, 732, 757, 758, 819 Phenylalanine hydroxylase , 4, 5, 17–18, 20, 720, 728, 763, 818 aspartate , 537, 538 Phenylbutyrate , 47–49, 59, 61, 138, 715 δ-Ornithine aminotransferase, 50 Phenylpropionylglycine , 258, 260, 764 ornithine transcarbamylase (OTC) , 48, 49, 51, 56, 58–61, 646, 703, Phenylpyruvic acid , 5, 744, 763, 766, 767 710, 715, 727, 728, 739, 746, 756, 757, 804, 818 Phenytoin , 332, 431, 770 ornithine transporter (ORNT1) , 49, 50 Phosphate , 228, 229, 249, 267, 275, 276, 289, 295, 341, 351, 377, 384, Orotate , 55, 646, 655, 714 476, 479, 481, 499, 530, 577, 578, 646, 710, 716, 823, 830 Orotic acid , 51–53, 56, 58, 86, 90, 93, 98, 172, 643, 650, 712, 728, Phosphatidylcholine (PC) , 41, 44, 557, 559 767, 769 Phosphatidylinositolglycan , 485, 487, 502, 826 Orotidine , 50, 55, 650, 655 Phosphoenolpyruvate , 485, 487, 502, 826 Orotidine monophosphate , 50 Phosphoethanolamine , 403, 753, 758 Osmolality , 108, 130, 131, 133, 134 Phosphoethanolaminuria , 181 Oxalate , 465–467, 469–473 Phosphofructokinase , 269, 284 Oxalic acid , 468, 469, 744, 763, 765, 769, 772 Phosphoglucomutase , 268, 272, 279 Oxipurinol , 648, 649, 659 Phosphoglucomutase 1 , 268 2-Oxoadipate , 695 Phosphoglycerate 2-Oxobutyric acid , 744 dehydrogenase , 64, 68, 73, 819 7 αOH-3-oxo-4-cholenoic acidb, 566 kinase , 269, 285, 821 18-Oxocortisol , 609, 614 mutase , 269, 285 2-Oxoglutarate dehydrogenase , 3-Phosphohydroxypyruvate , 70 104, 144, 146, 314, 315, 320, 357, 821 Phospholipids , 229, 376, 380, 556, 559 2-Oxoglutaric acid , 308, 313–317, 319–321, 578 Phosphomannomutase 2 , 484, 486, 490, 826 2-oxo-4-hydroxybutanoic , 70 Phosphomannose isomerase , 484–486, 491, 509, 511, 826 3-oxo-4-hydroxybutanoic , 70 5'-Phosphoribosyl-5-aminoimidazole-4-carboxamide , 170 4-oxo-6-hydroxyheptanoate , 26 5'-Phosphoribosylglycinamide , 170 2-Oxoisocaproic acid , 744 Phosphoribosyl pyrophosphate , 647 2-Oxo-4-methiylbutyric acid , 744 Phosphoribosyl pyrophosphate synthetase 1 , 643, 647, 658, 659, 824 2-Oxo-3-methylvaleric acid , 744 Phosphoribosyl pyrophosphate synthetase (PRPPS) , 643, 645, 746 5-Oxoprolien , 663 Phosphorylase , 269, 282, 283, 296, 643–646, 648, 651, 658, 659, 746, Oxoprolinase , 693, 696, 702–703, 770 804, 824 5-Oxoprolinase , 661–663, 666, 668, 763 Phosphorylase kinase , 269, 283, 332, 820 5-Oxoproline , 25, 27, 661, 662, 664, 665, 667, 696, 702 3-Phosphoserine , 70 3-Oxothiolas , 106 Phosphoserine aminotransferase (PSATI) , 64, 65, 68, 70, 78, 79, 710 3-Oxothiolase activity , 104, 116, 744, 745, 818 Phosphoserine phosphatase (PSPH) , 64, 65, 68, 70, 74, 81, 710, 819 Oxysterol 7α-hydroxylase , 555–557, P450 21-hydroxylase , 605 561, 567, 568, 574, 824 Phytanic acid , 76, 378, 381, 384–386, 388, 389, 393–395 Test and Medication Index 853

Phytanoyl-CoA hydroxylase , 377, 381–383 Pyrimidine-5'-nucleotidase I , 643, 650, 747 Phytomenadione , 394, 396, 573 Pyrimidine , 650 Pipecolic acid , 183, 186, 188, 384, 758 Pyroglutamic acid , 661–663, 702, 703, 711, 726, 746, 747, 763, 766, Plasmalogens , 229, 375, 380, 385, 388, 389, 393–395 770 Polymerase gamma , 338, 340, 341 Δ-1-Pyrroline-5-carboxylate (P5C), 66, 67, 71, 78, 81, 82, 181, 184, Porphobilinogen (PBG) , 24, 26–29, 541, 542, 550, 745 186, 697, 698 deaminase , 542, 549 synthetase , 71 synthase , 24, 26–29, 542 Pyrroline-5-carboxylate , 47, 48, 184, 728 Porphyrin I , 549 Pyrroline-5-carboxylate dehydrogenase , 66, 181, 728 Porphyrins , 541, 542, 545–548, 550–553, 743, 825 Pyrroline-5-carboxylate synthetase (P5CS) , 47–50, 55, 58–61, 66, 67, Porphyrins type I , 546 69, 71, 79–81 Potassium , 97, 295, 325, 330, 332, 476, 479, 481, 607–609, 612, Pyruvate , 35, 38, 50, 57, 60, 64, 70, 104, 146, 159, 219, 223, 229, 616, 716 230, 303–311, 316, 327, 328, 330, 332, 337–339, 345, channel tetramerization domain-containing protein 7 , 403 351, 355, 357, 358, 652, 700, 701, 712, 728, 744–746, citrate , 97, 298 756–758, 806 P450 oxidoreductase (POR) , 587–589, 596, 599, 601, 604, 605, 611 carboxylase , 57, 219, 221, 224, 303–311, 700, 712, 728, 745, 746, P-protein , 63, 64, 68 757, 758, 806, 820 Pramipexole , 526 dehydrogenase , 64, 77, 104, 146, 228, 303–311, 338, 357, 358, Pravastatin , 687 728, 821 Prednisolone , 616 dehydrogenase phosphatase , 305, 821 Prednisone , 616 6-Pyruvoyl-tetrahydropterin synthase (PTPS) , 3, 4, 6, 12, 13, 18, 728, Pregnanediol , 587, 594 829 Prenyl diphosphate synthase , 235, 237 Primapterin , 4, 7, 9, 12 Pristanic acid , 378, 379, 381, 382, 384–387, 389, 393, 574 R Progesterone , 551, 604, 605, 607, 608, 610, 612–614 Receptor , 43, 65, 81, 98, 167–169, 171, 175, 176, 192, 194, 198, Progesterone receptor , 605 206–210, 325, 330–332, 382, 402, 428, 476, 516, 517, 526, Progranulin , 400, 403 551, 553, 555, 587, 602–604, 634, 636, 672–674, 679, 683, Prolactin , 6–8, 495, 516, 519, 521, 523, 525 685, 688, 710, 724, 728, 825, 829 Prolidase , 66, 68, 69, 76, 79–82, 710, 753, 757, 758, 820 Receptor 2 , 634, 635 Proline , 50, 55, 56, 58, 63–82, 92, 181, 185, 186, 305, 309, 537, 693, Renin , 604, 608, 609, 612 694, 697, 698, 726, 728, 750, 751, 755, 758, 763, 816, 819 Replagal , 428 Proline oxidase , 66, 69, 693, 697, 698 Reticulocytes , 231, 284, 285, 664, 665, 668, 747 Propionylcarnitine , 119, 120, 122, 211–214, 716, 725, 726, 764, 771, Rhodamine B , 462 783 Rhodanese , 159 Propionyl-CoA carboxylase , 105, 106, 119, 219, 221, 223, 762, 772, Ribitol , 578–582, 799 777 Ribofl avin , 145, 154–156, 162, 189, 233–243, 249–251, 261–263, Propionyl-CoA carboxylase defi ciency , 105, 106, 777 359, 716, 743, 772, 822 Propionylglycine , 97, 119, 123, 223, 258, 260, 764 Ribofl avina , 155 Proprotein convertase subtilisin/kexin type 9 , 674 Ribofl avin transporter 2 , 235 Protein 3 , 559, 674 Ribose-5-phosphate isomerase , 577–579, 581, 582, 710, 799, 820 Protein kinase , 269, 283, 332 Rifampicin , 571, 575 Prothrombin , 24, 28, 38, 40, 386, 559–561, 563, 580, 627, 678 Ropinirole , 527 Prothrombin ratio , 386, 559–561, 563, 627, 678 Rosuvastatin , 687 Protoporphyrin , 545, 548–550, 553, 636 IX , 541, 545, 547–549 IX-Zn , 545 S Protoporphyrinogen oxidase , 543 Saccharopine , 146, 695, 700, 758 Protoporphyrin-Zn , 545 S -Adenosylhomocysteine , 34–41, 43, 44, 196, 531, 728, 758, 819 Protoprophyrin , 543 S -Adenosylmethionine (SAM) , 35, 37–41, 176, 193, 195, 206, Protoprophyrinogen , 543 211–213, 215, 531, 697, 703 PRPP synthetase activity , 647 SAdo , 654, 655 PSATI. See Phosphoserine aminotransferase (PSATI) SAICArc , 654 Pseudouridine , 655 SAICAriboside , 647 P450 side-chain cleavage , 605 Salicylates , 744 Pterin-4a-carbinolamine dehydratase , 4, 7, 19 Saposin A , 401, 404, 411, 426, 431, 827 PTPS activity , 6 Saposin A-D , 402, 405 Purine nucleoside phosphorylase , 643, 645, 648, 658, 659, 746, 804, Saposin B , 401, 405, 411, 426, 431, 827 824 Saposin C , 402, 406–407, 412, 426, 827 Pyrazolones , 743 Sapropterin , 4, 10, 20 Pyridoxal phosphate , 35, 36, 64, 717 Sarcosine , 40, 538, 693, 695, 699–701, 758 Pyridoxal 5'-phosphate (PLP) , 168, 175, 178–182, 184, 187, 195 Sarcosine dehydrogenase , 93, 700 Pyridoxine , 41, 43, 66, 77, 78, 179–181, 184, 186, 188, 189, 201, 341, SCAD. See Short-chain acyl CoA dehydrogenase (SCAD) 353, 466, 471, 472, 526, 527, 537, 701, 710, 716, 717, 829 S-2-carboxypropyl-cysteamine , 117, 123, 125 Pyridoxine hydrochloride , 537 S-2-carboxypropyl-cysteine , 117, 123, 125 Pyridox(am) ine 5'-phosphate oxidase , 180, 181, 184, 185, 195 Scavenger receptor B1 , 674, 679, 683, 688, 689 854 Test and Medication Index

SCHAD. See Short-chain 3-hydroxyacyl-CoA dehydrogenase Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) , 361, 362, (SCHAD) 367–370, 711, 744, 746, 821 S C O T . See Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) Succinyl-/methylmalonylcarnitine , 726 Sebacic acid , 114, 121, 367, 767 4-Sulfatase , 450, 452, 460, 486, 788, 790, 792 Sedoheptitol , 560, 581, 582 Sulfatides , 403, 405, 411, 415, 424, 426 Sedoheptulose , 476, 577, 578, 580–582, 800 Sulfi te , 188, 191–198, 200, 201, 745 Sedoheptulose-7-P , 578, 580–582 Sulfi te dipstick , 200, 745 Selegiline , 20, 526, 527 Sulfocysteine , 197 Sepiapterin , 3, 4, 8, 14, 17, 20, 703, 829 Sulphide-CoQ reductase , 159, 162 Sepiapterin reductase , 3–5, 8, 14, 17, 20, 703, 829 Sulphite , 33–35, 39–41, 45, 159, 200, 657 Serine , 35, 63–82, 92, 93, 180, 267, 297, 382, 484, 634, 750–752, Sulphite oxidase , 159, 162 757, 758 Sulphocysteine , 33, 39, 40 Serotonin , 3, 4, 20, 333, 515–518, 521, 522, 525–527 Sulphur dioxygenase , 158, 159 Sertraline , 20, 517, 526, 527 Sulthiame , 96 Short-chain acyl CoA dehydrogenase (SCAD) , 158, 162, 249–251, 256, 259, 261, 262, 602, 693, 697, 704, 726, 728, 746, 764, 772, 777, 779, 783, 821 T Short-chain glycine conjugates , 257 Taffazin , 106 Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) , 153, Taliglucerase , 427 249–251, 256, 259, 261–263, 330, 711, 745, 764, 772, 777, Taurine , 33, 35, 81, 82, 191, 195, 782, 783 197, 198, 201, 555, 556, 559, 565, 566, 568, 750–753, 756, Sialic acid , 404, 437–447, 483–485, 489, 504, 787, 790–791, 799, 758, 812 814, 826, 828 Taurine g , 199 Sialin , 437–440, 446 Taurotetra-[tri/penta]-hydroxycholestanoic acids , 562 Sialini , 443 Testosterone , 481, 602–604, 608, 610–615 Sialotransferrins , 490–509, 511, 653 Tetradecanedioylcarnitine , 726 Simvastatin , 588, 687 Tetradecanoylcarnitine , 726 Sitosterols , 675, 682, 683, 686, 689, 825 Tetradecenoylcarnitine , 726 SLC6A3 transporter , 517 Tetrahydrobiopterin (BH4) , 3–21, 168, 172, 174, 515, 516, SLC6A8 transporter , 530 525, 720 SLC46A1 transporter , 169 Tetrahydrobiopterin (BH4) loading test , 6, 7, 11, 17, 20 Sodium , 59–61, 81, 96, 108, 130, 132, 216, 261, 266, 274, 295, 297, Tetrahydrocortisol , 609, 610, 614 298, 358, 359, 476, 479, 481, 537, 545–547, 551, 604, Tetrahydrocortisone , 609, 610, 614 607–609, 612–614, 667, 697, 715, 716 Tetrahydrofolate , 63, 70, 170, 208 benzoate , 47, 48, 59–61, 81, 96, 97, 132, 133, 216, 537, 715, 744 Tetrahydroxycholestanoic acids , 565, 568 benzoatea , 61 Tetrasaccharide , 497 bicarbonate , 358, 359, 481, 667, 716 Tetrasialotransferrins , 509 PBAa , 61 Thiamin , 124, 359 PBA/sodium phenylacetate , 60 Thiamine , 104, 131, 134, 227–231, 304, 310, 710, 711, 716, 829 Sodium-dependent , 86, 87, 270 monophosphate , 228 Sodium-dependent glucose transporter-2 , 266, 268 Thiaminee , 134 Sorbitol , 278, 287 Thiamine pyrophosphate (TPP) , 227–229, 304 Sphingomyelinase , 285 Thiamine triphosphate (ThTp) , 228 S -Sulfocysteine , 191, 192, 195, 196, 200, 753, 758 Thiolase , 393, 568 S -Sulfocysteined , 199 Thiopurines , 642, 644, 654, 657, 659 Statins , 97, 298, 586, 599, 687, 688 Thiopurine S -methyltransferase , 644, 654, 659, 824 Steroid 5 alpha-reductase , 487, 505 Thiosulfatee , 199 Steroids , 81, 82, 429, 586, 602, 607, 615, 761 Thiosulphate , 34, 43, 45, 158–160, 162 Sterol Threonine , 54, 92, 93, 105, 122, 138, 180, 181, 185, 187, 484, 702, C5-desaturase , 588 726, 750, 751, 758 C4-methyloxidase , 588, 589, 596 Thrombocytopenia , 24, 68, 76, 97, 104, 109, 110, 116, 118, 120, 133, 27-hydroxylase , 557, 558, 561, 567, 568, 747 228, 230, 232, 345, 406, 411–413, 427, 492, 493, 578, 580, Suberate , 258 590, 627, 747 Suberic acid , 114, 121, 367, 769 THTR1 transporter , 229 Suberylglycine , 258, 260, 764, 767 Thymidine , 65, 167, 651, 655 Subfamily member A1 , 674 Thymidine kinase 2 , 341, 642, 644, 653, 824 Subtilisin/kexin type 9 , 674 Thymidine phosphorylase , 642, 644, 646, 651, 658, 824 Succinate , 91, 194, 239, 240, 306, 313, 314, 320, 358, 359 Thymine , 644, 651, 655, 766, 769 Succinate-CoA ligase , 315, 341 Thyroxin-binding globulin , 490, 491, 497 Succinic acid , 70, 121, 317, 319, 763, 766, 769, 770 Tiglylcarnitine , 115, 116, 123, 126, 726 Succinic semialdehyde , 65, 69, 70, 75, 81, 153, 763, 828 Tiglylglycine , 115, 116, 119, 123, 125, 221, 368, 369, 762, 767 Succinic semialdehyde dehydrogenase , 65, 69, 70, 75, 81, 153, Tiopronina , 97 763, 828 TPP. See Thiamine pyrophosphate (TPP) Succinylacetone , 24, 26–31, 723, 725, 726, 763, 765, 766, 768, 770 T-protein , 63, 64, 68, 819 Succinyladenosine , 647 Tranilast , 657 Succinyl-CoA , 107, 146, 205, 206, 313–315, 320, 703, 708, 777 Transaldolase , 577–580, 582, 583, 799, 800, 820 Test and Medication Index 855

Transaminases , 24, 50, 65, 69, 70, 74, 81, 82, 106, 248, 252–257, 386, Uroporphyrins , 548, 549 490–492, 494, 496, 503, 505–508, 556, 562, 563, 575, 590, Urothione , 197, 198 625, 632, 644, 652, 701, 710, 717, 728, 757, 824, 828 Ursodeoxycholic acid , 552, 553, 565, 571, 574, 575 Transcobalamin , 207–210, 829 Ursodeoxycholic acida , 574 Transferrin , 68, 296, 483, 485, 506, 507, 511, 545, 633, 635–638 Transmembrane CLN3 protein , 400, 402 Transporter-1 , 85–87, 228, 265, 266, 268, 274, 293–294, 711 V Tranylcypromide , 526 Vacuolated lymphocytes , 281, 408, 409, 418, 440, 442, 747 Trientine , 631, 632 Valine , 92, 93, 103–139, 305, 308, 328, 726, 728, 750, 751, 756, 758, Triglycerides , 20, 280, 282, 283, 294, 298, 299, 405, 415, 671, 762, 782 676–682, 686, 703, 714, 747 Valproate , 64, 78, 79, 81, 155, 294, 359, 431, 709, 752, 754, 756, 766, Triglycerides, pseudo , 696 770, 771 Trihexyphenidyl , 155, 526, 527 Valproic acid , 98 (25R)-3α,7α,12α-Trihydroxy-5β-cholestan-26-oic acid (THCA), 562 Vanillactic acid , 518, 519, 522, 523, 525 Trimethoprim-sulfamethoxazoles , 18, 19 Vanillinlactic acid , 185 Trimethylamine , 695, 699, 700, 799 Vanillylmandelic acid (VMA) , 518, 520, 523, 525 3 β,7α,12α-triOH-5-cholenoic acida , 566 Very long-chain acyl-CoA dehydrogenase (VLCAD) , 249–251, 253, 7 α,12α-triOH-3-oxo-4-cholenoic acidb , 566 258–263, 704, 726, 728, 733, 734, 745, 747, 764, 777, 779, Tripeptidylpeptidase-1 , 400–402, 424 783, 821 Trisialotransferrins , 509 Very-long-chain fatty acids (VLCFA) , 378, 384–389, 393–395, 629, Tryptophan hydroxylase , 3 729 Tyrosine , 3, 10, 11, 17–19, 23–31, 723, 725, 726, 750, 751, 755, 758, 763 Vesicular H(+)-ATPase subunit a2 , 488 aminotransferase , 23–26, 728, 763 Vesicular monoamine transporter 2 , 517 hydroxylase , 5, 515, 516, 518, 828 Vesicular transport , 516, 517, 521, 526 Tyrosine-3-hydroxylase , 3, 517 , 386, 394, 560, 563, 573, 678

B6 , 33, 175, 176, 179–189, 299, 471, 476, 526, 537, 538, 629, U 710, 753

Ubiquinone , 162, 233, 234, 243, 251, 342, 359, 822 B 12 , 20, 176, 205–217, 710, 716, 723, 753, 768, 770, 771 Ubiquinone-50 , 590 binding protein , 207 UDP-Gal epimerase , 277 C, 44, 297, 639, 661, 662, 667, 668 UDP-GlcNAc epimerase/kinase , 487, 504, 826 D , 98, 205, 298, 299, 386, 396, 553, 563, 572, 574, 672 Uncoupling protein 2 , 325, 327, 330, 343 E , 162, 386, 394, 396, 560–563, 573, 661, 662, 667, Uracil , 55, 651, 655, 769 668, 678 Urated , 654 K , 295, 296, 387, 394, 396, 571, 573, 829 Urates , 743 VLCAD. See Very long-chain acyl-CoA dehydrogenase (VLCAD) Urea , 47–53, 59–61, 96, 98, 468, 469, 537, 646, 680, 709, 715, 724, VLCFA. See Very-long-chain fatty acids (VLCFA) 732, 745, 746, 749, 750, 752, 756, 804, 811, 818 VMA. See Vanillylmandelic acid (VMA) , 39, 109–111, 116, 119, 120, 191, 193, 197, 198, 200, 201, 275, 277, 278, 280, 282–284, 289, 298–300, 331, 473, 476, 479, 642, 647–650, 656, 657, 696, 712–714, 716, 717, X 744–746 Xanthine , 191, 193, 194, 197–201, 648, 649, 654, 657, 659 Uridine , 50, 655, 658 Xanthine dehydrogenase , 643, 648 diphosphate galactose-4-epimerase , 266, 268, 277, 820 Xanthurenic acid , 695, 701, 744 monophosphate , 50 Xylitol , 658 monophosphate synthase , 643 Xylose , 744 Uridine-5'-monophosphate hydrolase , 643, 824 Xylulose , 578, 581 Uridyltransferase , 266, 268, 276 Urocanase , 693, 694, 698, 819 Urocanic acid , 694, 698 Z Urocanoylglycine , 694 Zinc , 98, 446, 548, 550, 553, 623–632, 830 Uroporphyrinogen acetate , 631, 632 decarboxylase , 543, 549 protoporphyrin , 548–550 III synthase , 542 sulphate , 631, 632

SignSymptoms Index

A Anterior eye chamber anomalies , 485, 501 Abasia , 148 Anteriorly placed anus , 501 Abdominal , 294, 324, 427, 541, 542, 544, 673 Anteverted nares , 591–593 Abdominal distension , 180, 334, 415, 499 Antley-Bixler syndrome , 587, 588, 594, 596, 600, 611, 824 Abdominal pain/paina , 277, 288, 289, 333, 351, 407, 412, 545–547, Anxiety , 65, 75, 417, 732 550, 627, 637, 651, 681, 687, 710 Aortic insuffi ciency , 414, 504, 506 Abducted thumbs , 498 Apathy , 209, 210, 625, 629 Abnormal behavior , 34, 67, 193 Apnea , 72, 91, 96, 108, 112, 172, 188, 193, 197, 198, 200, 221, 304, Abnormal jitter , 493 401, 454, 457, 461, 497, 778 Absent head control , 54, 619 Arachnodactyly , 39, 275, 491, 499, 594 Absent puberty , 496 Arched palate , 497, 595 Absent pubic and axillary hair , 603, 611 Arcus cornealis , 676–678, 680, 681 Absent uterus , 611 Arefl exia , 350, 651 Absent/weak tendon refl exes , 38 Arrhythmia , 109, 111, 118, 247–249, 252, 254, 255, 261, 263, 279, Acanthocytosis , 678 386, 388, 417, 710, 716, 778 Accelerated growth , 65, 74, 608, 609 Arterial ruptures , 628 Achondrogenesis , 508 Arthralgia , 585, 637 Acrocyanosis , 157, 158 Arthritis , 25, 27, 30, 413, 464, 790 Adducted thumbs , 65, 73 Ascites , 350, 490, 627 Adiposity , 280, 282, 283 edema , 408 Adrenal calcifi cation , 415 oedema , 560 Adrenal hyperplasia , 601, 602, 605, 607–610, 724, 734, 746 Astasia , 148 Adrenal insuffi ciency, 385, 387, 394, 395, 562, 580, 594, 607–609, 711 Asterixis , 51, 53 Agenesis , 64, 67, 72, 185, 307, 341, 498, 590, 592, 593 Ataxia , 51–54, 64, 65, 72, 73, 75, 85–87, 89, 90, 93, 94, 96, 98, 108–110, corpus callosum , 105, 117, 185, 304, 307, 308, 349, 492, 500, 501, 113, 116–119, 144, 148, 149, 171, 173, 210, 211, 221, 222, 586, 587, 590, 592, 593 234, 235, 238, 274, 304, 339, 340, 344–348, 350–352, 354, Akinesia , 422 383, 386–388, 408–411, 416–423, 441, 442, 491, 496, 521, Alopecia , 107, 109, 221, 222, 591, 592, 629 561, 581, 585, 627, 647, 664, 678, 710, 822, 823 Alopecia areata , 497 cerebellar , 65, 144, 234, 235, 387, 388, 503, 561, 578, 590, 799 Altered consciousness , 109, 317, 732 Atherosclerosis, severe , 415 Ambiguous genitalia , 587, 591, 601, 602, 604, 607, 608, 610, 611 Athetosis , 110, 227, 317, 519 Amblyopia , 508 Atlantoaxial instability , 453, 454, 456, 457, 461 Anaemia , 181, 206, 207, 214, 234, 266, 292, 298, 577, 583 Atrophic scars , 499 haemolytic , 211, 212, 274, 276, 284, 285, 577, 580, 627 Atrophy , 6, 7, 39, 65, 67, 72–75, 104, 108, 110–115, 118–121, 144, megaloblastic , 206, 209–212, 650, 829 148, 168, 171, 173, 180, 198, 201, 210–212, 222, 228, 234, Anemia , 65, 68, 104, 168, 169, 176, 177, 228, 230, 231, 428, 544, 237, 279, 304, 313, 317, 320, 339, 340, 345, 347, 348, 350, 550, 553, 585, 634, 639, 661, 699 353, 354, 386, 388, 400, 405, 408–410, 412, 414, 416–423, dyserythropoietic , 509 441, 468, 469, 491, 493–496, 498, 502, 503, 505–507, 530, hemolytic , 639, 661, 662, 664–666 532, 561, 581, 624, 625, 628–631, 638, 647, 651, 653, 724, hypochromic , 353, 545, 546, 634, 638 752, 822, 826 macrocytic , 113, 210, 231, 345 gyrate of choroid and retina , 532 megaloblastic , 65, 73, 168, 169, 171, 172, 206, 209–212, 214, Attention defi cit disorder , 38, 88 227–230, 650, 699, 711, 829 Attention defi cit hyperactivity , 64 microcytic , 634 Attention disorder , 75 hypochromic , 353, 545, 546 Autism , 5, 169, 317, 531, 532, 647, 651 nonhemolytic , 711 Autistic spectrum disorder , 115, 121, 171 sideroblastic , 341, 345, 353, 542, 544, 545, 711, 823, 825 Autonomic symptoms , 14 Angiokeratoma , 407, 408, 412, 430, 441, 442 Axial hypotonia , 6, 8, 39, 65, 144, 148, 160, 316, 318, 350, 491, 494, Anomalous pulmonary venous return , 593 495, 504, 521, 590 Anorectal anomalies , 502 Axonal motor neuropathy , 67 Anorexia , 209, 276, 277, 333, 490, 502, 629, 651 Axonal sensory motor , 75, 507 Anosmia , 386, 388, 395, 396 Axonal sensory motor polyneuropathy , 65, 73, 108

857 858 SignSymptoms Index

B cardiomegaly , 368 Basal ganglia dilated , 104, 111, 114, 117, 118, 255, 281, 367, 503, 505 abnormalities , 112, 113, 115, 116, 118, 119, 320, 531, 631, 810, 813 hypertrophic , 111, 278, 279, 281, 283, 324, 348–350, 352, 353, calcifi cations , 7 412, 440, 442, 492, 506 lesions , 111, 113–116, 119–121, 211, 230, 627, 711, 804 Carotid/femoral bruits , 676–678, 681, 682 Beaked nose , 497 Carpal tunnel syndrome , 453, 454, 457, 461 Behavior Cataract , 55, 65, 67, 73, 75, 112, 267, 275, 276, 295, 298, 347, 384, aggressive , 38, 75, 171, 417, 455, 456, 520, 590 385, 388, 393–396, 493, 494, 500, 501, 505, 532, 556, 561, diffi culties , 75, 112, 385 562, 585–588, 590–593, 595, 625, 627, 629 psychotic , 8, 89 posterior subcapsular , 532 Behavioral abnormalities , 34, 422, 588, 593 retinitis pigmentosa glaucoma , 384 Behavioral disorder , 256, 416–418, 420–422, 453, 454, 520 Cerebellar , 34, 65, 75, 233, 234, 354, 407, 507, 561, 662, 804, 806 Big open mouth , 496 abnormalities , 110, 111, 446, 500, 501, 505 Bilateral sensory hearing loss , 112 ataxia , 65, 144, 235, 387, 388, 410, 578, 799, 823 Bilateral striatal necrosis , 227–230, 345 atrophy , 38, 39, 65, 112, 168, 171, 234, 412, 416–423, 506, 507, Bile duct proliferation , 561, 563 629, 806 Bitemporal narrowing , 593 hypoplasia , 39, 54, 75, 91, 113, 490, 492, 493, 590, 647 Bladder diverticula , 624, 628 and pontine hypoplasia , 34 Bleeding , 31, 161, 280, 427, 428, 496, 504, 559, 561, 562, 573, 578, vermis agenesis , 65, 74, 498 638, 678 Cerebral tendency , 280, 496, 678 atrophy , 65, 75, 108, 110, 111, 113, 114, 119, 120, 198, 210–212, Blindness , 148, 345, 346, 387, 401, 411, 507, 530, 532, 647 320, 353, 354, 493, 495, 496, 503, 629, 631, 651, 653, 806 cortical , 197, 198, 284 and cerebellar atrophy , 39, 112, 168, 171, 412, 416–423, 506, 507, Blisters , 27, 544, 546, 547, 550 629 hepatosplenomegaly , 27 cortical malformations , 500, 501, 508 Bone dysplasia , 462 infarction , 114, 367, 412 Bone pain , 406, 411, 412, 468, 469, 499 neocortical dysplasia , 384, 593 Brachydactyly , 498, 501 palsy , 4, 8, 14, 317, 649 Bradykinesia , 7, 518, 521 white matter involvement , 65, 144, 384, 387, 399, 578 Brain atrophy , 115, 201, 400, 405, 495, 506 Cerebrocostomandibular-like syndrome , 506 Brain dysgenesis , 304 Cervical Brain edema , 48, 108, 116, 118, 119, 130, 143, 294, 483, 715, 808 compressive myelopathy , 490, 591 cytotoxic , 108 myelopathy , 453, 454, 456, 457, 461 Brain oedemaa , 276 stenosis , 385 Bridging fi brosis , 560, 561, 563 Cherry red spot , 408–410, 413, 442 Broad alveolar ridges , 591, 593 “Cherubic” face , 111 Bulbar dysfunction , 222, 345, 493, 521 Choanal atresia , 594 Buphthalmos , 500, 501 Cholestasis , 35, 53, 54, 267, 333, 340, 346, 393, 553, 556, 557, Burst suppression , 64, 72, 91, 181, 497 559–563, 565, 569, 571, 574, 575, 634, 635, 638, 822, 825 Cholestatic jaundice , 416, 557, 564, 578, 711 Chondrodysplasia punctata , 375, 377, 385, 389, 391, 393–395, 586, C 588, 591, 592, 594, 598, 809, 824, 828 Cabbage-like odor , 697 Chondro-osseous , 587, 594 Cachexia , 351 Chondrosarcoma , 498 Calcifi cations , 7, 25, 115, 388, 407, 415, 499, 586–588, 591, 592, Chorea , 64, 65, 72, 113, 148, 519, 521 594, 806 Choreoathetosis , 6, 115, 118, 119, 149, 316, 318, 409, 502, 649 Calcifi ed aortic valve , 677 Chorioretinal degeneration , 529, 530, 532, 537 Calcinosis cutis , 468, 469 Chronic , 24, 26, 49, 60, 65, 67, 68, 73, 89, 97, 104, 108, 118, 130, Callosum , 34, 64, 67, 72, 76, 105, 117, 180, 185, 198, 304, 305, 307, 134, 135, 143, 157, 158, 160–162, 175, 180, 210, 211, 228, 308, 341, 349, 414, 492, 500, 501, 586, 587, 590, 592, 593, 242, 249, 313, 317, 321, 349, 354, 407, 410, 412, 427, 429, 805, 810 431, 442, 465, 466, 468, 469, 471, 476, 479, 496, 517, 542, Camptodactyly , 67, 493 543, 550, 553, 580, 625, 633, 634, 639, 649, 651, 659, 672, Cardiac 700, 738, 790, 813, 814, 822 anomalies , 35, 40, 212, 386, 501, 580, 590, 592, 593 Chronic aphthous ulceration , 111 malformations , 40, 211, 501, 580, 590, 592, 593 Cleft palate , 279, 502, 587, 591–593 Cardiac arrest, sudden , 278 Clinodactyly , 498 Cardiac arrhythmias , 109, 111, 252, 254, 255, 261, 388, 417, 716 Clitoral hypertrophy , 580, 594, 608 Cardiac failure , 281, 331, 430, 710 Clonic seizures , 67 Cardiac preexcitation syndrome , 281, 283 Closure of fontanels , 493, 508 Cardiomegaly , 349, 368 Clots, stroke , 111 Cardiomyopathy , 64, 104, 105, 109, 111, 113, 115, 116, 118–121, Club foot , 384, 491, 492, 499, 591, 593 130, 132, 138, 145, 149, 210–212, 230, 234, 237, 238, 247, Clumsiness , 416, 627 248, 252–255, 257, 262, 263, 266, 279, 282, 291, 300, CNS ataxia , 52–54, 73, 89, 90, 110, 113, 116, 118, 119, 149, 171, 173, 345–349, 354, 358, 388, 396, 408, 414, 417, 446, 453, 454, 211, 222, 238, 274, 344–348, 350–352, 354, 383, 408, 410, 457, 461, 468, 469, 490, 504, 509, 578, 580, 633, 634, 637, 411, 416–423, 441, 442, 491, 496, 521, 561, 581, 590, 627, 778, 822 647, 664, 678 SignSymptoms Index 859

Coagulopathy , 24, 31, 38, 181, 353, 387, 389, 493, 573, 627, 710, 711 Degenerative hip dysplasia , 453, 454, 456–458, 461 Coarse facial features, 317, 408, 409, 414, 415, 440–442, 453–458, 463 Dehydration , 105, 130, 131, 133–135, 210, 211, 221, 274, 293, 304, Cobblestone lissencephaly , 500, 501 370, 476, 607–609, 659, 710, 745 Cognitive decline , 105, 400, 401, 418, 421, 422, 562 Delayed puberty , 563 Cognitive dysfunction , 37, 113, 238, 416, 417, 422, 478, 521, 593 Dementia , 110, 209, 210, 212, 345, 348, 385, 400, 401, 409, 410, 556, Colitis , 158, 663 561, 571, 574, 638, 710 Collodion skin , 411 Demyelination , 34, 37, 168, 173, 386, 387, 394, 431, 490, 493, 495, Coloboma , 493, 505, 650, 651 561, 814 Color vision defi cit , 347 Dental caries , 277 Coma , 48, 51–54, 64, 130, 221, 228, 324, 332, 545–547, 710, 752, 778 Dental defects , 479, 499 hyperammonemic , 89 Depression , 64, 347, 417, 625, 629, 638 lethargy , 108, 109, 114, 116, 118, 119, 121, 252–254, 257, 366, 368 Dermatitis , 595, 623, 625, 629, 631, 632 Conduction defi cits , 248, 347, 348, 358 psoriasiform , 595 Confusion, episodic , 51–54 Developmental delay , 14, 24, 30, 34, 35, 37–40, 51–55, 64, Congenital 65, 67, 68, 94, 105, 109, 117, 118, 120, 121, 127, anomalies , 249, 257, 261, 386 144, 145, 148, 149, 168, 185, 210–212, 221, 222, encephalopathy , 421, 541 234, 256, 304, 307–309, 314, 320, 344, 348, 351, heart defects , 210, 228, 385, 578, 719, 734 362, 383, 387, 394, 395, 401, 406, 442, 493, 497, Connective tissue abnormalities , 628 516, 519, 521, 530–532, 534, 561, 562, 585–588, Consciousness disturbance , 54, 197, 198 590, 592, 595, 647, 648, 650, 697, 699, 701, 702 Constipation , 476, 532, 545–547, 550 Developmental regression , 168, 169, 171, 172, 209, 221, 339, 416, Contractures , 67, 75, 112, 300, 385, 388, 394, 395, 414, 415, 453, 454, 417, 419–421, 423, 502 457, 458, 461, 490, 494, 507, 587 Development delay , 15, 611 Convulsions , 34, 55, 65, 114, 191, 193, 304, 325, 326, 628, 710 Deviations of fi ngers , 498 Corneal clouding , 75, 284, 408, 414, 441, 442, 453, 456–458, 461, Diabetes , 4, 19, 230, 331, 340, 346, 428, 481, 593, 664, 680 673, 711, 735, 754, 822 Corneal cystine crystals , 475, 477, 479 Diabetes mellitus , 227, 228, 230, 231, 266, 323, 333, 340, 346, 367, Corneal erosion , 222 476, 478, 509, 633, 691, 744 Cornea verticillata , 412 type 2 , 327, 355 Coronal clefts , 385 Diabetes MODY3-like , 7 Coronary artery disease (CAD) , 453, 461, 646, 679, 680, 682, 687 Diaphragm dysfunction , 479 Coronary atherosclerosis , 677 Diarrhea , 89, 134, 135, 168, 171, 351, 453–456, 461, 473, 490, 491, Corpus , 604 504, 511, 517, 585, 590, 663, 696 Corpus callosum , 34, 64, 67, 72, 76, 105, 117, 180, 185, 198, 304, chronic , 158, 160, 496, 625 305, 307, 308, 341, 349, 414, 492, 500, 501, 586, 587, 590, Diarrhoea , 158, 162, 274, 280, 288, 289, 592, 593, 805, 810 298, 333, 334, 366, 383, 384, 556, Cortical atrophy , 173, 414, 494, 496, 502, 532 562, 563, 625, 628, 629, 650, 651, 659 Cortical-subcortical atrophy , 6, 7, 65, 73, 112, 304, 414 chronic , 160, 210 Course, episodic , 317 Digestive signs , 711 Coxa valga , 67 Dimethylsulphide , 37 Cramps , 281, 283, 290, 354, 538, 648, 711 Diminished visual activity , 384 Craniosynostosis , 587, 594, 604 Dimorphism , 545 Cryptorchidism , 112, 493, 501, 580, 591, 592, 607, 608, 610, 611 Dislocation , 34, 67, 75, 90, 197, 198, 414, 497, 752 Cushing stigmata , 612 Diurnal fl uctuation of symptoms , 7, 8 Cutaneous nodules and swelling , 458 Doll-like face(ies) , 280, 282, 283, 409 Cutis laxa , 67, 68, 75, 275, 485, 508, 580, 625, 628, 819 Drooling , 6, 394, 461, 518, 519, 521, 627 Cystic hygroma , 594 Drowsiness , 94 Drug reactions , 497 Dry skin , 395, 505, 508 D Ductus arteriosus , 580, 593 Dandy-Walker malformation , 314, 586, 592 Dwarfi sm , 492, 499, 506, 507, 585, 597 Deafness Dysarthria , 8, 90, 115, 148, 149, 340, 348, 411, 416, 417, 422, 519, conductive , 498, 650 521, 522, 627 sensorineural , 104, 112, 228, 234, 235, 237, 238, 313, 314, 316, Dysdiadochokinesis , 37, 521 318, 346, 347, 351, 352, 355, 383, 385, 387, 441, 461, 498, Dyskinesia , 7, 17, 169, 173, 521, 527 563, 591, 638, 647 Dysmetria , 37 Death , 6, 7, 34, 67, 90, 96, 144, 168, 181, 192, 193, 195, 210, 227, Dysmorphia , 387 228, 231, 238, 247, 248, 252, 276–279, 281, 283, 284, 300, Dysmorphic features , 67, 76, 105, 111, 117, 121, 304, 314, 317, 321, 340, 344–346, 348–353, 357, 368, 386, 197, 198, 212, 256, 284, 304, 307, 317, 388, 400, 401, 411, 428, 492, 495, 505, 508, 580, 594, 618, 353, 384–386, 490, 500, 501, 503, 578, 619, 634, 638, 717, 719, 720, 732, 735, 738, 775, 778, 822 580, 587, 590, 593, 619, 647, 650, 652 Decerebrate posture , 148 Dysmorphism , 68, 94, 112, 117, 249, 304, 341, 344, 349, 399, 453, Decreased body height , 118, 120, 496, 501, 504, 506 491–497, 499, 501, 502, 504–06, 508, 587, 593 Decreased cortical sulci , 115 Dysmyelination , 386, 653 Deep tendon refl exes , 209, 210, 413, 678 Dysostosis multiplex , 399, 408, 409, 415, 440–442, D e fi cient ossifi cation , 508 453–458, 490 860 SignSymptoms Index

Dysphagia , 7, 156, 288 Facial weakness , 493 Dysphasia , 561 Failure to thrive, 23–25, 27, 28, 38, 51, 53, 55, 67, 104, 105, 107–110, Dysplastic ears , 496, 594 112, 113, 116–119, 121, 127, 160, 168, 171, 181, 209–212, Dystonia , 3, 4, 7, 10, 20, 37, 65, 67, 75, 108, 112, 115, 117–121, 144, 221, 255, 256, 267, 277–279, 304, 307–309 316–318 , 345, 148, 149, 155, 160, 221, 228, 230, 231, 234, 238, 274, 308, 348, 350–352, 368, 384, 386, 387, 390, 413, 415, 468, 469, 314, 316–318, 320, 340, 344–346, 352, 408–410, 416, 417, 475, 476, 479, 490, 492, 495, 496, 502, 505, 506, 508, 530, 419, 420, 446, 516–519, 521, 627, 652, 710, 778, 822 531, 563, 564, 585, 595, 609, 617–619, 625, 629, 635, Dystonic posturing , 304 650–653, 696, 752, 778 Dystrophic nails , 591, 592 acidosis , 23, 27 Dystrophic thumbs , 316 Fanconi syndrome , 28, 292, 346, 475–477, 479, 480, 656, 711, 743–745, 750, 757 and renal , 711 E Fatigue , 281, 637, 700 Early death , 34, 181, 276–279, 281, 283, 284, 340, 346, 411, 492, 495, Fat pads , 484, 495 505, 508, 638, 822 Features, 14, 39, 67, 68, 76, 104, 105, 111, 117, 121, 161, 162, 168, Ectopia lentis , 39 169, 176, 197, 198, 201, 210, 212, 221, 222, 228, 256, 266, Ectopic calcifi cations , 499 274, 276–279, 284, 304, 307 317 , 320, 328, 338, 353, 382, Edema , 34, 108, 130, 133, 198, 228, 350, 408, 409, 492, 493, 508, 384–388, 400, 406–409, 414, 415, 438, 440–442, 446, 449, 538, 548, 550, 578, 585, 808, 811 453–458, 461, 462, 479, 490, 500, 501, 503, 517, 519, 521, generalized , 350, 493 529, 530, 539, 569, 578, 580, 585, 587, 590, 593, 619, 647, Elongation , 275 650, 652, 657, 659, 673, 710, 737, 738, 752, 805, 811, 817 Emotion ability , 411 Febrile episodes , 711 Enamel hypoplasia , 508 Feeding Encephalocele , 500, 501 diffi culties, 6, 39 72, 74, 75, 107–109, 111, 112, 117–119, 121, Encephalomyopathy , 129, 234, 314, 315, 320, 341, 822 148, 172, 197, 198, 212, 238, 305, 317, 318, 352, 358, 411, Encephalopathic crisis, acute , 51–54, 108, 109, 148, 211, 230, 507 413, 492–496 503 , 506, 518, 521, 591, 628, 651, 653 Encephalopathy habits , 277 acute , 109, 117–120, 230, 257 protein aversion , 51–53 epileptic , 54, 87, 96, 168, 181, 341, 353, 717 Female external genitalia , 602, 603, 607 episodic , 14, 239 Femoral bowing , 594 progressive , 91, 619, 628, 653 Fertility , 608, 609 Endometrium , 604, 612 Fetal hydrops , 317, 409, 458, 490, 580, 587, 594, 711 Endothelial dysfunction , 642 Fever , 97, 180, 189, 227, 292, 358, 407, 411, 429, 473, 506, 770 Epicanthal folds , 386, 591 Fibrosis , 34, 68, 188, 282, 283, 407, 429, 466, 470, 478, 491, 560, Epilepsy 561, 563, 564, 577, 578, 582, 634, 637, 638, 653, 719, 724, generalized , 228, 345 725, 728 intractable , 54, 169, 230, 351, 496, 502, 511 Finger anomalies , 506, 507 Epileptic encephalopathy , 96, 168, 181, 717 Fingers, overlapping , 497, 499 Epileptic seizures , 177, 405, 440, 441, 446, 491, 518, 552 Fish odor , 693, 695, 699, 700, 711, 797, 799 Epiphyseal and periarticular calcifi c stippling , 384, 385, 387 Fits , 110, 573, 650 Epstein-Barr virus infection , 498 Flared nostrils , 304 Equinovarus , 7, 499 Flexion contractures of fi ngers , 507 Erythema , 588, 592, 595 Foam cells , 409, 411–413, 416, 672 necrotizing , 54 Focal epilepsy , 230 Erythematous, papular eruptions , 68, 76 Focal segmental glomerulosclerosis , 346 Erythroderma , 503, 505, 561, 586–588, 629, 824 Foetal hydrops , 34, 38, 41 Erythrodontia , 544 Follicular atrophoderma , 591 Everted lower lip , 496 Fontanel enlarged , 384 Excess skin , 493 Foot deformity , 497, 620 Exercise intolerance , 111, 234, 255, 256, 347, 353, 354, 520, 648, 822 Frequent infections , 168, 171, 629 Exertion intolerance , 267, 278, 279, 282–286 Frontal bossing , 35, 40, 304, 499, 595 Exophthalmia , 499–501 Frontotemporal atrophy , 115, 121 Exostosis , 628 Functional joint impairment , 498 External genitalia , 602, 603, 607, 615 Extrapyramidal movement disorder , 65, 113, 148, 154, 155, 210, 211, 417, 418, 422 G Extrapyramidal signs, 112, 118, 119, 212, 638 Gait disturbance , 171, 172, 408, 411, 415–417, 422, 503 Eye movements , 181 Gallstones , 284, 548, 556, 561, 562, 564, 565 abnormal , 8, 172, 411, 412, 519, 651, 653 Gastric tube feeding , 431, 492, 497, 502 Gastroesophageal refl ux , 317, 496, 501 Gastrointestinal bleeding , 496 F Gastrointestinal dysmotility , 8, 112, 347, 351, 358, 492, 651, 653 Facial dysmorphism , 68, 94, 112, 249, 344, 349, 399, 449, 453, Gastrointestinal side effect , 18, 19, 333, 428 491–495, 497, 499, 501, 502, 504–506, 508, 587, 593 Gastroparesis , 651 Facial dysmorphism , mild, 344 Gelastic cataplexy , 416 Facial stigmata , 275, 279 Genital ambiguity , 603, 604, 608, 609, 611, 612 SignSymptoms Index 861

Genital hypoplasia , 492, 496, 594 Holoprosencephaly , 590 Genitalia , 587, 591, 601–604, 607, 608, 610, 611, 615 Hydrocephalus , 64, 72, 172, 180, 415, 453, 454, 461, 500, 501, 592, Genu valgum , 39, 453, 456, 457, 461, 479 703, 711, 806 Giant cell hepatitis , 559–562, 564 Hydronephrosis , 501, 594 Gingival hypertrophy , 408, 414 Hydrops , 34, 38, 41, 279, 317, 409, 453, 458, 490, 499, 578, 580, 587, Glaucoma , 384, 453, 457, 461, 500, 501 594, 711 Glomerulonephritis , 90, 97, 790 Hydroureter , 501 Glomerulopathy , 24, 234 Hyperactivity , 38, 64, 65, 72, 75, 90, 388, 455, 456, 650, 651 Glomerulosclerosis , 280, 346 Hyperekplexia , 85–87, 90, 93, 95, 96, 98, 198 Glossitis , 222 Hyperelastic/loose skin , 67, 499 Glucose intolerance , 231, 288, 611 Hyperesthesia , 545–547 Growth hormone defi ciency , 367, 503, 505 Hyperexcitability , 65, 73, 401 Growth retardation , 55, 67, 73, 97, 111, 234, 254, 298, 314, 323, 340, Hyperfi ltration , 275, 280 346, 349, 385, 401, 409, 468, 469, 501, 508, 518, 578, 580, Hypergonadotropic , 118, 276, 295, 490 591, 593, 623, 638, 822 Hyperinsulinemic , 711, 818 Gum hypertrophy, 497 Hyperinsulinism , 48, 249, 256, 263, 323–334, 580, 710, 712, 714, Gynecomastia at puberty , 610 745, 754 Gyration , 64, 806 Hyperkeratosis , 24, 27, 503, 508, 629 palms and soles , 27 Hyperkinesia , 107, 412, 516, 517, 519, 521 H Hyperlaxity joints , 78 Haematuria , 649 Hyperlipidaemia , 298, 556, 561, 574, 825 Haemolysis , 300, 624, 627 Hypernasal speech , 521 Haemolytic anaemia , 266, 577, 580, 627 Hyperostosis , 499 Haemolytic uraemic syndrome , 212 Hyperphalangism , 498 Hair abnormality , 505 Hyperpigmentation , 327, 633, 637 Hallucinations , 417, 550 Hyperrefl exia , 91, 198, 493, 495 Handwriting , 627 Hypersplenism , 68, 427 Headache , 37, 144, 148, 358, 517, 562, 607, 609 Hypertelorism , 68, 317 migraine like , 346 Hypertension , 64, 90, 298, 383, 406, 427, 428, 545–547, 550, 551, Head circumference , 5, 65, 209, 228, 464 564, 580, 583, 601, 603, 604, 607, 609, 612, 642, 657, 710 Head control , 54, 519, 521, 619 arterial , 275 Head-retraction refl exa , 90 Hyperthermia , 521 Hearing impairment , 35, 492, 495, 502 Hyperthyroidism , 562 Hearing loss , 112, 173, 222 Hypertonia , 5–8, 39, 65, 74, 108, 109, 116, 118, 119, 171, 210, 211, sensorineural , 40, 115, 118, 228 221, 345, 491, 494, 495, 519, 521, 651, 664, 700 Heart block , 283 extremities , 6, 491, 495, 521 Heart failure , 111, 171, 228, 388 Hypertrichosis , 331, 334, 544, 546, 550 HELLP syndrome , 249, 254, 711, 740, 778 Hypertrophic , 112, 248, 278, 279, 281, 283, 291, 324, 348–350, 352, Hemihypertrophy , 324 353, 407, 412, 440, 442, 492, 506 Hemiplegic migraine , 90 Hyperventilation , 267 Hemolytic anemia , 639, 661, 662, 664–666 Hypodense white matter , 651 Hemolytic uremic syndrome , 169, 172, 711 Hypogenesis , 185, 307, 590, 592, 593 Hemophagocytic , 89, 97 corpus callosum , 185, 307, 590, 592, 593 Hemorrhagic diarrhoea, chronic , 157, 160 Hypoglycemia , 104, 105, 111, 114, 127, 131–133, 136, 138, 247–249, Hemosiderosis , 346, 634, 635, 638, 639 252–257, 263, 267, 303, 309, 314, 319, 321, 367, 492, 517, Hepatomegaly , 34, 38, 45, 109, 110, 112, 114, 116, 118–120, 248, 526, 711–714, 716, 743, 754, 778 265, 267, 275, 278, 280–283, 324, 366–368, 383, 387, 414, Hypogonadism , 65, 73, 118, 276, 295, 347, 478, 481, 490, 580, 478, 493, 495–497, 506, 507, 710, 752, 778 633, 637 Hepatomegalya , 276, 277 Hypogonadotropic hypogonadism , 580 Hepatopathy , 27, 248, 279, 368, 635, 637, 710 Hypo/hypertonia , 8, 108, 109, 116, 118, 119, 211 myoclonic epilepsy , 339 Hypokinesia , 7, 8, 304, 307, 345, 417, 423, 497, 519, 521 Hepatosplenomegaly , 89, 317, 351, 353, 399, 405, 406, 408–416, phenotype , 494 427, 440–442, 446, 449, 453, 454, 457, 458, 461, 503, Hypolobated , 594 506, 544, 560, 561, 577, 578, 580, 585, 587, 590, 627, Hypomimia , 521 633, 653, 680, 696 Hypomyelination , 34, 63, 78, 85–87, 91, 93, 95, 171, 341, 353, 414, Hernia(s) , 55, 67, 75, 90, 409, 414, 440–442, 453, 454, 457, 458, 415, 629, 799, 810 461, 628 Hypopigmentation , 5, 595 diaphragmatic , 275 Hypopigmented hair , 6, 7 Hiccupping , 64 Hypoplasia , 34, 38, 54, 64, 72, 74, 77, 91, 113, 144, 148, 173, 456, Hiccups , 72 457, 490, 492–494, 496, 498, 499, 508, 580, 586, 587, High-pitch crying , 191, 198 590–594, 602, 647, 703, 805, 823 Hip dislocation , 67, 75, 90, 414 of pons , 38 Hip dysplasia , 453, 454, 456–458, 461 Hypoplasia/cortical atrophy , 173, 494 Hirschsprung , 591 Hypoplastic corpus callosum , 34 Hoarseness , 413 Hypoplastic labia majora , 497, 594 862 SignSymptoms Index

Hypoplastic long bones , 592 J Hypoplastic nails , 492, 502, 592 Jaundice , 31, 54, 284, 383, 386, 387, 389, 413, 509, 556, 557, Hyporefl exia , 502, 506 559–564, 574, 575, 580, 627, 653, 664, 667, 711 Hypospadias , 112, 492, 591–594 cholestatic , 416, 557, 564, 578 Hypotension , 197, 198, 334, 481, 517, 526 Joint contractures, 75, 385, 414, 415, 453, 454, 457, 458, 461, 490, 587 orthostatic , 520, 628 Joint laxity , 55, 67, 75, 275, 453, 456, 457, 499, 508, 624 Hypothalamic dysfunction , 562 Hypothermia , 238, 304, 517, 520, 628, 653 during crisis , 108, 109, 120 K Hypothyroidism , 475, 476, 478, 481, 493, 562, 580, 673, 719, 720, Kearns-Sayre syndrome (KSS) , 340, 345, 347, 348, 358, 710, 822 723–725, 728, 731 Kinky hair , 625, 628 Hypotonia , 7, 14, 34, 38, 39, 41, 64, 65, 67, 72, 74, 75, 91, 94, 104, KSS. See Kearns-Sayre syndrome (KSS) 107, 145, 149, 161, 185, 209–212, 253, 256, 304, 305, Kyphoscoliosis , 461, 498 307–309, 313, 314, 317, 320, 344, 345, 348–354, 383, Kyphosis , 39, 411, 453, 454, 456, 457, 461, 497, 505 386–388, 401, 405, 408–410, 412, 413, 442, 490–495, 497, 502, 503, 505–508, 516, 518, 519, 521, 530, 578, 580, 585–587, 590, 592, 593, 595, 619, 647, 651–653, 778, 819, L 664702 Lack of pubertal , 607 axial , 6, 8, 144, 148, 160, 316, 318, 350, 491, 494, 495, 504, 521, Lacrimation , 27 590 Language diffi culties , 8, 37, 75, 416, 421–423 mild , 7 Large-and medium-size arteries , 275 muscular , 108, 109, 111, 112, 114–118, 120, 121, 132, 143, 144, Large ears , 67 148, 197, 198, 221, 252–255, 257, 274, 278, 279, 281, 383, Laryngeal and tracheal calcifi cation , 587, 594 387, 410, 414, 415, 505, 517, 590, 617, 618 Laxity , 63, 67, 75, 624 Hypotoniaa , 518 Leber amaurosis-like , 648 Hypovolaemic shocka , 74 Leber hereditary optic neuropathy , 340, 348, 822 Hypoxia , 287, 413, 756, 812 Left ventricular non-compaction , 111 Hypsarrhythmia , 64, 65, 72, 73, 91 Leigh-like syndrome, 160, 314 Leigh syndrome , 112, 230, 233–235, 237, 304, 307, 308, 318, 340, 344, 348–350, 354, 806, 822, 823 I Lennox-Gastaut syndrome , 65, 73 Ichthyosiform erythroderma , 505, 586–588, 591, 824 Lens , 292 Ichthyosiform skin lesions , 586, 592 changes , 281 Ichthyosis , 385, 386, 388, 394–396, 415, 503, 505, 586, 592, 598, 618, dislocation , 34, 197, 198, 752 625, 629, 825 Lethargy , 48, 64, 72, 74, 81, 210, 304, 324, 518, 696, 710 Immunodefi ciency , 169, 441, 498, 650 coma , 108, 109, 114, 116, 118, 119, 121, 252–254, 257, 366, 368, Immunodefi ciency, severe combined (SCID) , 169, 172, 643, 648, 752, 778 656, 724 Leucoencephalopathy , 577, 578, 581, 651 Impaired ejaculation , 520 Leucopenia , 97, 580 Incomplete epiphyseal closure , 603, 611 Leukodystrophy , 64, 148, 385, 387, 396, 401, 403, 405, 408, 409, 411, Infections , 16, 31, 68, 109, 117–120, 132, 133, 136, 221, 229, 230, 424, 426, 431, 786, 809, 827 242, 247–249, 257, 293, 295, 296, 298, 300, 304, 332, 370, progressive , 348 385, 395, 466, 473, 480, 511, 551, 552, 623, 625, 634, 659, Leukoencephalopathy , 110, 341, 351, 354, 809, 823, 824 661, 714, 715, 719, 754 Leukopenia , 109, 334, 345, 627 Infertility , 478, 603, 604, 612 Limb defects , 586, 588, 592, 824 I n fl ammatory bowel disease , 280, 298, 466 Lipemia retinalis , 681 Inguinal hernias , 67, 461 Livedo reticularis , 234, 468, 469 Insomnia , 519 Liver adenoma , 280 Intellectual disability , 65, 113, 168, 169, 384, 529, 530, 532, 534, 586, carcinoma , 280, 282 593 Liver carcinoma , 26, 280 Interictal nystagmus , 90 Liver cirrhosis , 276, 277, 279, 411, 413, 509, 553, 559, 563, 564, 580, Intersexuality , 602, 615 633, 637 Interstitial changes , 90, 413 Liver cirrhosisa , 276, 277 Intestinal dysmotility , 591 Liver disease , 23, 24, 28, 29, 34, 35, 45, 387, 544, 553, 561, 563, 571, Intestinal pseudo obstruction , 185, 351, 625, 629, 651, 711 573–575, 583, 624, 634, 639, 703, 723, 743–745, 814 Intrauterine cardiomyopathy , 254 Liver dysfunction , 24, 38, 40, 53, 54, 110, 112–114, 116–119, 121, Intrauterine growth retardation , 55, 67, 254, 314, 323, 346, 349, 401, 212, 239, 248, 252–255, 257, 316, 318, 348, 350, 354, 366, 578, 580, 638 455–457, 490, 508, 548, 564, 591, 627, 629 Inverted nipples , 492, 493, 495, 496 Liver failure , 26, 30, 31, 255, 341, 349, 351, 353, 354, 384, 387, 575, Iridodonesis , 39 580, 583, 631, 634, 710, 715, 756, 814, 822, 823 Irritability , 5, 209, 317, 324, 411, 502, 518, 519, 527, 590, 625, 627, acute , 51–53, 580, 627, 711 629, 710 Reye-like , 256, 326 episodic , 108 Liver failurea , 276, 277 Ischaemic heart disease , 561 Liver fi brosis , 34, 68, 188, 283, 407, 429, 466, 478, 491, 560, 561, Itching , 386, 550, 559, 563, 564, 631 563, 577, 578, 634, 637, 638, 653, 719, 724, 725 eczematous lesions , 76 biliary cirrhosis , 282, 564 SignSymptoms Index 863

Liver steatosis , 54, 345, 653 315, 326, 385, 386, 388, 401, 416, 421, 423, 440, 491–496, Long eye lashes , 497 503, 505–508, 586–588, 590, 592, 593, 595, 617–619, 651, Long philtrum , 304 653, 663, 829 Loose stools , 134, 135, 333, 394, 575 Micrognathia , 68, 491, 591–593 Loss of central vision , 281, 345, 348 Microhaemorrhages , 160, 161 Loss of hair , 107 Micromelia , 50, 85 Loss of night vision , 386 Micropenis , 492, 580 Loss of peripheral retinal pigment , 281 Microphthalmia , 500, 501, 505, 591 Loss of speech , 121 Midface hypoplasia , 499, 591, 592, 594 Loss of very early milestones , 148 Midline brain malformations , 505 Low birth weight , 210, 212, 345 Migraine, ocular , 121 Low body temperature , 119 Mild dysmorphic features , 67, 111, 121 Lung bleeding , 638 Miller syndrome , 643, 650 Lung disease , 411, 427, 454, 456, 457, 461 Minor contralateral bone , 592 Lung infi ltrates , 413 MODY , 326 Lungs , 98, 299, 300, 411, 413, 427, 447, 454, 456, 457, 461, 555, Motor impairment , 618, 620 594, 634 Motor neuropathy , 67, 545–547, 550 Lymphadenopathy , 413 Motor retardation , 148, 285, 414, 415, 647, 651 Lymphedema , 68, 76, 442 Movement Lymphocyte growth , 496 abnormal , 39, 496, 627 Lymphohistiocytosis , 89, 97 decreased spontaneously , 107 Lymphopaenia , 648 disorder , 113, 115, 116, 144, 155, 171, 209, 221, 274, 293, 294, 352, 400, 401, 416–423, 517, 521, 526, 529–531, 537 Multifocal epilepsy , 64, 65, 72, 73 M Muscle cramps , 281–284, 290, 354, 538, 648 Macrocephaly , 40, 144, 148, 149, 237, 317, 409, 410, 441, 442, 453, Muscle crampsa , 279, 282, 283 454, 458, 493, 508, 587, 593 Muscle crampsb , 284–286 Macroglossia , 281, 324, 354, 408, 414 Muscle dystrophy , 504 Macrophage activation , 89, 446, 711 Muscle pain , 110, 283, 358, 545–547, 710 Macrosomia , 324–327, 330 Muscle paina , 282 Macrothrombocytopenia , 504 Muscle painb , 284–286 Macular dystrophy , 346, 419 Muscle wasting , 504 Macular hypoplasia , 592 Muscle weakness , 8, 38, 110, 172, 234, 237–239, 249, 257, 267, 278, Maculopathy/retinopathy , 212, 416 279, 282–284, 299, 344, 349, 351, 354, 358, 409–411, 479, Malabsorption , 167–169, 171, 175, 176, 206, 265, 266, 268, 274, 503, 530, 532, 628, 653 275, 293, 394, 466, 556, 573–575, 590, 651, 678, 743–745, progressive , 40, 347 820, 829 Muscle weaknessb , 284–286 Malar fl ush , 39, 76 Muscular atrophy , 279, 410, 624, 625, 628, 630, 724 Male genital hypoplasia , 492, 496, 594 Muscular dystrophy , 497, 500, 501, 703 Malignant hepatoma , 564 Muscular hypotonia , 34, 41, 91, 132, 143, 144, 148, 221, 252–255, Malnutrition , 42–45, 156 257, 383, 387, 401, 410, 414, 415, 505, 530, 618 chronic , 317, 651, 809 Musty odor , 711 Malrotation , 492, 501 Myasthenic syndrome , 493, 494 Maple syrup odor , 711 Myelination delay , 34, 38, 144 Marfanoid features, 39 Myelopathy , 37, 211, 212, 453, 454, 456, 461, 490, 561, 591 Megacisterna magna , 39 Myocardial infarct , 561, 672 Megalencephaly , 410 Myocardial ischemia , 676–679, 681, 682, 687 Megalocornea , 410 Myoclonic epilepsy , 86, 87, 93, 95, 168, 339, 340, 345, 400–403, Memory problems , 121 416–420, 423, 441, 822 Mental defi ciency , 385 Myoclonic epilepsyb , 91 Mental deterioration , 408–410 Myoclonic seizures , 64, 65, 181, 304, 401 Mental development , 4, 366, 368 Myoclonus , 65, 405–408, 412, 416–422, 426 Mental retardation , 5, 6, 17, 23, 24, 27, 28, 39, 64, 66–68, 81, 90, 94, Myoglobinuria , 234, 249, 267, 304, 308, 650, 711, 743 104, 142, 148, 149, 171–173, 180, 185, 209, 211, 231, 234, Myokymia , 94 237, 256, 274, 276, 278, 281, 284, 304, 313, 314, 326, Myopathy , 34, 38, 111, 233, 234, 248, 252–255, 257, 261, 267, 304, 345–347, 351, 383, 403, 414, 415, 440–442, 461, 494, 517, 308, 340–342, 344–349, 351, 353, 354, 476, 479, 585, 648, 534, 556, 578, 618, 625, 628, 647, 650–652, 662, 663, 649, 651, 662, 664, 703, 778, 822, 823 698–700, 720 peripheral , 479 mild , 90, 113, 520 Myopia , 34, 39, 281, 496, 501, 504, 508, 530, 532 Mental retardationa , 518 Mental retardationb , 89 Metabolic stroke , 109, 112, 118, 119, 210, 211, 217, 804, 811–812 N Metaphyseal and epiphyseal dysplasia , 385 Nasal congestion , 519, 521 Microadenomatosis , 323 Nasal hypoplasia , 499, 592 Microcephaly , 5–7, 35, 65, 67, 73–75, 91, 117, 121, 168, 171–173, Nasal secretion , 521 197, 198, 227–230, 256, 274, 278, 303, 304, 307, 308, 313, Nausea/vomiting , 90, 289, 332, 333, 545–547, 550 864 SignSymptoms Index

Neoplasm , 498 Orthostatic , 517, 520, 526, 628 Nephrocalcinosis , 26, 298, 465, 466, 468, 469, 471, 479, 580 acrocyanosis , 157, 160, 161 Nephrolithiasis , 197, 198, 294, 466, 468, 469, 479 cyanosis , 711 Nephromegaly , 275 Ossifi cation , 499, 508 Nephropathy , 234, 295, 298, 656, 657, 823 Osteochondroma , 498 Nephrotic syndrome , 234, 237, 238, 241, 684, 711 Osteodystrophy , 313, 314, 316, 414, 479 Nerve conductive velocity , 411, 415 Osteopenia , 67, 75, 118, 120, 280, 282, 384, 406, 428, 479, 490, 493 Nesidioblastosis , 323 Osteoporosis , 34, 39, 67, 75, 89, 98, 295, 411, 427, 428, 479, 497, Neuroaxonal dystrophy , 438, 441, 786 508, 562, 595, 703 Neurodegeneration , 191, 192, 194, 195, 201, 234, 242, 311, 399–431, Otitis media , 76, 414, 415, 453, 454, 457, 461 582, 635, 638 Ovarian cysts , 607, 611 Neurodegenerative disease , 400, 416–423 Ovarian failure , 276 Neurogenic bladder , 506, 507 Neurological deterioration , 4, 320, 411, 415, 430, 431, 475, 476, 624, 710 Neurological symptoms , 11, 24, 35, 63, 104, 105, 143, 151, 211, 216, P 316–318, 394, 395, 399, 400, 427, 428, 437, 511, 516, 526, Pain , 24, 30, 110, 248, 283, 288, 289, 333, 351, 358, 395, 406, 407, 544, 551, 562, 617, 618, 624, 627, 661, 662, 664, 739 411, 412, 427, 428, 468, 469, 499, 515, 545–547, 550–552, Neurologic crises , 24, 31 627, 637, 651, 681, 687, 710 Neurologic deterioration , 72, 161, 171, 350, 352 Palmoplantar hyperkeratosis , 508 Neurologic dysfunction , 210, 212, 255, 303, 376, 395 Pancreatic dysfunction , 345, 478 Neuropathic pain , 395, 412 Pancreatic failure , 353 Neuropathy Pancreatitis , 108, 109, 114, 118, 119, 131, 133, 211, 280, 367, 556, axonal motor , 67, 75, 507 563, 671, 681, 687, 711 myelinating , 497, 651 Pancytopenia , 109, 168, 171, 172, 176, 209–211, 411, 413, 468, 469, 711 peripheral , 171, 172, 227, 237, 238, 248, 249, 254, 281, 304, 307, P A P . See Pulmonary alveolar proteinosis (PAP) 318, 344, 351, 383, 387, 388, 478, 503, 538, 550, 578, 618, Paresis , 53, 386, 551, 561 680, 710 Parkinsonism , 7, 8, 347, 561 sensorimotor , 384, 387 hypokinetic , 307, 521 sensory , 44, 189, 340, 347, 348, 532, 822 Patent ductus arteriosus , 580, 593 sensory axonal , 347, 348 Pathological fractures , 406, 411, 412, 427, 468, 469 Neutropenia , 104, 109–111, 116, 118, 120, 133, 136, 280, 298, 317, Pectus excavatum , 497, 498 332, 511, 628, 711, 747 Pectus excavatum/carinatum , 275 Neutrophilia , 504 Peculiar facies , 628 No visual contact , 619 Perceptive hearing loss , 385 Nystagmus , 37, 65, 73, 90, 107, 110, 113, 148, 210–212, 234, 304, Pericardial effusion , 490, 495 350, 351, 442, 494, 503, 505, 587, 651, 653 Perinatal bleeding diathesis , 504 Periodic limb movement during slip , 90 Periodontitis , 504 O Peripheral neuropathy , 227, 248, 249, 304, 387, 388, 478, 538, 578, Obesity , 234, 237, 355, 358, 611, 673, 753 618, 710 Obstructive sleep apnea , 454, 457, 461 Pes cavus , 39, 562 Obstructive uropathy , 89, 506 Pes equinovarus , 7 Ocular fl utter , 521 Pes planus , 67, 75, 479, 503 Ocular hypertelorism , 68 Petechiae , 158, 160, 161, 711 Oculogyric crises , 14, 516 Phalangeal duplications , 498 Oculomotor apraxia , 238, 407 Phalangeal malformations , 502, 594 Oculomotor dyspraxia , 75 Photodermatitis , 94, 96, 97 Odontoid hypoplasia , 456, 457 Photophobia , 27, 90, 476, 478, 479 Odor Photosensitivity , 89, 541, 544, 545, 548, 825 acrid , 110 Pigmentary retinopathy , 254, 345, 347, 417–421, 468, 469, 490, 500, of sweaty feet , 104, 109, 127, 711, 744 501, 562, 648, 664, 678 Odorous breath due to , 37 Pigment gallstones , 548 Oligohydramnios , 578, 580 Pitched cry, high , 74 Omphalocele , 594 Platyspondyly , 499, 587, 594 Ophthalmoparesis , 347–349, 358 Pneumonia , 6, 7, 148, 210, 358, 563, 599 Ophthalmoplegia , 228, 339, 340, 344, 346, 347, 350–352, 407, 653 otitis , 385 Opisthotonous , 148 Polycystic ovaries , 610 Opisthotonus , 108, 198, 221 Polydactyly , 586, 587, 591, 592 Optic atrophy, 72, 104, 110, 113, 118, 148, 222, 228, 234, 237, 317, 340, postaxial , 591, 593, 594 345, 347, 348, 350, 388, 408, 416–421, 423, 441, 468, 469, Polyneuropathy, chronic , 73, 228 491, 493, 495, 498, 503, 505, 561, 581, 638, 647, 651, 752, 822 Polyuria , 367, 475, 476, 479 Optic nerve atrophy , 144, 148, 234, 339 Pontobulbar palsy , 234, 237, 239 Optic neuropathy , 105, 120, 210, 211, 227, 230 Poor , 17, 33, 43, 47, 64, 65, 67, 153, 157, 162, 181, 200, 205, 210, Oral ulcerations , 280 221, 261, 310, 324, 387, 393, 409, 462, 472, 519, 521, 716, Organomegaly , 324, 428 752, 805, 806 Orobulbar dysfunction , 197, 198 visual fi xation , 386, 494, 519 SignSymptoms Index 865

Porphyria-like neurological crisis , 24, 26, 31 Renal Fanconi syndrome , 292, 346, 475, 476, 479, 480, 743, 744, 750, Portal hypertension , 383, 564 757 Posterior fossa malformations , 64 Renal hypoplasia , 591–593 Preaxial brachydactyly , 498 Renal hypoplasia/agenesis , 591–593 Prematurity , 3, 49, 54, 181, 185, 492 Renal osteodystrophy , 479 Progeroid appearance , 55, 67 Renal salt loss , 612 Progeroid face , 499 Renal tubular acidosis , 252, 627, 711, 746, 778 Progressive renal impairment , 120, 465, 466 Renal tubulopathy , 24, 26, 112, 120, 238, 275, 277, 341, 348, 350, Proliferation , 239, 240, 561, 563, 564, 587, 594 352, 493, 506, 580, 653, 822 Protein intolerance, 57 85 , 86, 89, 94 proximal , 345, 352, 638 Proteinuria , 97, 206, 209, 240, 407, 409, 412, 428, 460, 479, 490, 504 Renal tubulopathya , 277 Pseudoacinar transformation , 560 Respiratory distress , 111, 114, 116, 754, 778 Pseudopuberty , 610 Respiratory failure , 34, 54, 64, 186, 193, 341, 350, 504, 538, Pseudotumor cerebria , 276 551, 590 Psychiatric signs , 710 Respiratory infections , 76, 304 Psychiatric symptoms , 39, 81, 172, 211, 212, 314, 410, 417, 418, 550, Respiratory insuffi ciency , 38, 41, 90, 112, 119, 120, 181, 237, 497 627, 710 Restrictive lung disease , 411, 454, 456, 457, 461 Psychosis , 66, 89, 410, 411, 416, 441, 618, 620, 663, 664 Retardation , 5, 6, 17, 23, 24, 27, 28, 39, 55, 64, 66–68, 80, 89, 90, 94, dementia , 209, 210 97, 104, 111, 113, 143, 147–149, 171–173, 180, 185, 211, Ptosis , 358, 517 231, 234, 237, 254, 256, 274, 276, 278, 281, 284, 298, 304, Ptosis of eyelid , 346, 347, 351, 517, 519–521, 591–593, 653 313, 314, 323, 326, 340, 345–347, 349, 351, 383, 385, 401, Ptosis of eyelida , 518 403, 409, 414, 415, 440–442, 461, 468, 469, 475, 476, 494, Puberty, delayed , 478, 505, 607 501, 508, 517, 518, 520, 534, 556, 578, 580, 591, 593, 618, Pulmonary alveolar proteinosis (PAP) , 90, 97, 98 623, 625, 628, 638, 647, 650–652, 662, 663, 698–700, 720, Pulmonary edema , 255 822 Pulmonary hypertension , 64, 406, 427, 428, 710 psychomotor , 6, 8, 34, 39, 65, 72–76, 107–110, 112–116, 118, 119, Pulmonary hypoplasia , 591, 593 160, 173, 198, 209, 228, 235, 304, 316–318, 344, 348, 349, Pulmonary interstitial , 413 351–354, 401, 411–413, 415, 490–496, 498–504, 506–508, Pulmonary lobation , 591 580, 581, 585, 587, 590, 618–620, 625, 629, 647, 652, 663, Pulmonary stenoses , 275 664, 703 Punctate calcifi cations , 388, 592 psychomotorb , 91 of epiphyses , 586, 591 and regression , 110, 112, 117, 453–456, 458 Pyloric stenosis , 591 Retinal detachment , 492, 532 Pyramidal signs , 53, 75, 116, 157, 235, 238, 307, 316–318, 407, 478, Retinal dystrophy , 285, 394, 417–422, 453, 454, 461, 495, 503 521, 561, 649 Retinitis pigmentosa , 340, 345, 384, 386, 388, 396, 752, 822 Pyramidal syndrome , 67 Retinopathy , 210, 212, 248, 249, 254, 261–263, 345, 347, 387, 388, 416–421, 468, 469, 478, 490, 500, 501, 562, 638, 648, 664, 678 Q Reye-like , 248, 255, 256, 304, 326, 701, 702, 778 Quadriplegia , 200, 304 Rhabdomyolysis , 247–249, 252–255, 257, 260, 262, 265, 299, 349, 384, 387, 710, 778 Rheumatological , 648 R Rhizomelia , 75, 591 Radiohumeral , 498, 594, 604 Rhizomelic Radiolucent metaphyseal bands , 468, 469 shortness , 587, 594 Radioulnar synostosis , 498, 499, 594, 604 Rhizomesomelia , 593 Radius dislocation , 497 Rickets , 24, 26, 68, 275, 386, 475–477, 479, 481, 556, 559, 560, 563, Rash, eczematous , 6, 7 572, 573, 754, 757 Recurrent bacterial infections , 661, 662, 664 Rigidity , 7, 115, 304, 418, 422, 521 Recurrent infections , 173, 280, 496, 504, 506, 508, 638, 647, 650 Rigidity c , 518 Recurrent otitis media , 76, 414, 415, 453, 454, 457, 461 Recurrent skin infections , 504 Recurrent vomiting , 711, 778 S Reduced glomerular fi ltration rate , 120 Sagging cheeks, large fontanel , 67 Regression Scoliosis , 7, 39, 458, 479, 497, 501, 507, 591, 594 motor , 112, 143, 317, 401, 556, 578 Scotomata , 347 psychomotor , 115, 160, 238, 344, 348, 350, 400 ‘Second wind’ phenomenon , 282–284 Renal colic , 468, 469, 649, 663 Seizures Renal cysts , 249, 384, 386, 493, 495 complex partial , 417, 420, 421 Renal dysgenesis , 580, 591, 594 febrile , 110, 185 Renal enlargement , 26, 280, 490 intractable , 74, 353 Renal failure , 103, 105, 130, 137, 210, 234, 275, 299, 406, 409, 428, myoclonic , 6, 172, 412, 416, 417, 419, 420, 423 465, 466, 472, 481, 648, 649, 659, 673, 711, 754 myoclonic-astatic , 171 chronic , 26, 89, 118, 210, 211, 349, 354, 412, 442, 468, 469, 471, pharmacoresistant , 39, 185 476, 479, 580, 649, 659 tonic-clonic , 171, 197, 198, 416–422 end stage (ESRF) , 90, 408, 428, 465, 466, 472, 475 Seizuresa , 410 866 SignSymptoms Index

Self-injury , 590, 595 Stature Self-mutilation , 642, 649, 656, 659 short , 75 Sensorineural deafness , 104, 228, 235, 313, 314, 387, 461 tall , 611 Sensory disturbances , 386, 395 Steatorrhea/steatorrhoea , 333, 334, 386, 415, 556, 559, 563 Sepsis , 24, 31, 111, 112, 276, 295, 687 Stenosis , 385, 591, 594, 677 Severe combined immunodefi ciency (SCID) , 169, 172, 643, 648, Stenotic canals , 592 656, 724 Sternal bulging , 456, 457 Severe multisystem disease , 238 Sternal deformities , 39 Sexual dysfunction , 385, 388, 395 Stiffness , 90, 95, 96, 98, 286 Short clavicle , 499 Stillbirth , 508, 565, 594 Shortening of long bones , 385, 499, 586 Stomatitis , 171, 222, 234 Short fi ngers or toes , 498 Strabismus , 38, 75, 490–492, 494, 495, 503, 507, 508, 587, 591 Short metacarpals/metatarsals , 498, 587 coagulopathy , 34 Short palpebral fi ssures , 497 Stridor , 221, 710 Short stature , 67, 105, 275, 280, 282–284, 345–348, 440–442, 453, inspiratory , 222, 495 456–458, 586–588, 595, 608, 609 Stroke , 39, 109, 111, 112, 114, 118, 210, 211, 217, 228, 239, 407, 428, Sideroblasts , 545 671, 672, 804, 811, 812 Skeletal abnormalities, 34, 437, 461, 586, 587, 599, 611 cerebellar , 354 Skeletal deformations, 498 ischaemic , 275 Skeletal dysplasia , 385, 453, 492, 587, 588, 594, 824 Stroke-like episode(s) , 51–53, 238, 339, 340, 346, 359, 384, 387, 478, Skeletal hypomineralisation , 186 490, 503, 511, 710, 803, 804, 811, 812, 822 Skeletal malformations, 386, 388, 604 Subcapsular cataracts , 67 Skeletal myopathy , 261 Subcutaneous fat distribution , 490 Skeletal myopathy/muscular hypotonia , 252–255, 257 Subcutaneous nodules , 413 Skin blisters , 546 Subdural hematoma , 711 Skin fragility , 544, 546 Sudden death , 6, 7, 228, 247, 252, 281, 300, 317, 368 Skin lesions , 23, 24, 30, 68, 221, 586, 592 Sudden hearing loss , 710 Skin rash , 5, 222, 286, 334, 711 Sudden infant death , 90, 96, 717 Skin scarring and mutilation , 546 Sudden visual loss , 710 Skin ulceration , 76 Swallowing diffi culties , 148, 453–456, 478, 519 Sleep disturbance , 14, 75, 173, 455, 461, 518 Sweating , 519, 521 Slender fi ngers , 501 Sweating a , 518 Small ilia , 499 Sweaty feet odor , 711 Somatic development, delayed , 603, 611 Symmetric extension in the legs , 619 Somnolence , 48, 652, 696 Symphalangism , 498 Sparse hair , 67, 75, 89 Symptoms , 642, 662, 676, 694, 709, 732, 739, 752, 771, 778, 788, 797 Spasms , 64, 172, 221, 228, 304 Syncope , 278, 428, 517, 520 Spastic diplegia , 53, 648 Syndactyly , 498, 586, 591–593 Spasticity , 7, 64, 65, 72, 112, 113, 115, 144, 148, 149, 155, 161, 304, Synostosis , 498, 499, 594, 604 308, 314, 353, 354, 388, 395, 401, 408–411, 415–421, 431, Synovitis , 453 440–442, 581, 618, 628, 649, 662, 703 limbs , 110, 350 Spasticityc , 91 T Spastic paraparesis , 384, 562, 739 Tachycardia , 228, 428, 545–547, 550, 551 Spastic paraplegia , 113, 173, 556, 557, 561 Tachypnea , 210, 221, 278, 280, 304 Spastic pareses , 383, 385 Tachypnoea , 368 Spastic paresis/pyramidal signs , 53, 561 Teeth malposition , 497 Spastic tetraplegia , 73, 160, 197, 198, 411 Telangiectasia , 76, 408 Speech delay , 173, 278, 313, 317, 416, 417, 419–421, 423, 529–532 Teleangiectases , 275 Speech disorder , 257 Temperature instability, 6, 48, 51–54, 518, 519 Speech disturbances , 408–410, 414, 415, 627, 652 Temporal optic nerve pallor , 347 Sphincter control problems , 385 Tendon refl exes , 38, 209, 210, 304, 386, 413, 503, 628, 678 Spike wave discharges , 7, 75 decreased , 75, 354, 490, 619 Spinal cord increased , 7, 8, 37, 74, 171, 353, 653 compression , 457 Tetraparesis , 65, 160, 228, 648 myelopathy , 561 Tetraplegia , 73, 160, 197, 198, 441, 647 Spinocerebellar ataxias , 94 Thin body habitus , 593 Splenomegaly , 68, 76, 267, 279, 406, 427, 478, 495, 509, 564, 650 Thoracic hypoplasia , 499 Spondyloepiphyseal dysplasia , 453 Thrombocytopenia , 24, 68, 76, 97, 104, 109, 110, 116, 118, 120, 133, Sporadic tonic seizures , 91 228, 230, 332, 345, 406, 411–413, 427, 492, 493, 578, 580, Startle refl ex , 90, 95 590, 627, 747 Startle response , 90, 95 Thromboembolic episodes , 172 exaggerated , 408–410, 441 Thromboembolism , 39, 43, 44, 711 SignSymptoms Index 867

Thromboses , 491 Vertebral anomalies , 490, 497, 501, 591, 592 infarcts , 39 Vertical gaze palsy , 416 Thrombosis , 34, 279, 485, 496, 502, 672 Vertigo , 144, 148 Tiny face , 499 Virilization , 601–604, 608, 610, 611, 615, 740 Toe syndactyly , 586, 591–593 Visceral calcifi cations , 499 Tonsils, enlarged , 680 Vision Tortuosity , 55, 268, 275, 624, 806 decreased , 115 Tortuous arteries , 628 impaired , 51, 53, 173, 211, 212, 317, 346, 351, 352, 408–410, 478, , 7, 37, 149, 171, 304, 503, 521, 562, 627 496, 503, 638 Tremora , 518 progressive loss , 562, 647 Truncal ataxia , 117 tunnel , 532 Tubular acidosis , 711 Vision loss , 347, 385, 413, 416–423 Tubulointerstitial nephritis , 120 Volvulus of the stomach , 496 Tubulopathy , 341, 583, 634, 635, 717 Vomiting , 5, 48, 51–54, 67, 89, 90, 104, 105, 111, 118–121, 131, Twitching , 193, 197, 198 132, 148, 180, 185, 210, 211, 221, 239, 249, 289, 304, 307, 332, 334, 344, 346, 351, 353, 366, 367, 415, 473, 476, 490, 491, 502, 545–547, 550, 551, 651, 709, 711, U 716, 752, 753, 756, 778 Unrest , 173, 551 cyclic , 257 Upper airway obstruction , 454, 457, 461 episodic , 107–109, 114, 116–118, 495, 607, 609, 696 Urinary infections , 89, 468, 469, 628, 649 Vomiting a , 276, 277 Urolithiasis , 89, 298, 465, 466, 647–650, 657, 659, 663 cystine stones , 89 Urolithiasisa , 89 W Uterine muscle stiffnessa , 286 Walker-Warburg syndrome , 500 White matter lesions , 117, 367, 407, 408, 428, 806, 809 Wide nasal bridge , 304 V Wolf-Parkinson-White syndrome , 112 Vacuolar lymphocytes , 441 Wormian bones , 67, 75 Vacuolated lymphocytes , 281, 408, 409, 418, 440, 442, 747 Wrinkly skin , 55, 67, 506 Vacuolating , 34, 108 myelopathy , 37 Vacuolization , 345 X Valvular thickening, 408, 414, 453, 454, 456–458 Xanthelasma , 676–678, 680–682 Valvulitis, mitral , 27, 55, 89, 222 Xanthomas , 681, 682 Vegetative statec , 91 eruptive , 681 Ventricular arrhythmia , 249, 279, 778 tendon , 561, 676–678 Ventricular septal defect , 492, 493, 496, 506, 587, 592 Ventriculomegaly , 198, 593