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Disorder Index 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 Adenine phosphoribosyl transferase defi ciency , 643, 649, 658, Alpers-Huttenlocher syndrome , 341, 822 659, 824 Alpha-amino adipic semialdehyde (AASA) dehydrogenase defi ciency , Adenosine 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 Adenosine monophosphate 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 lyase (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) gene 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 ligase 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 phosphate 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 translocase 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
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