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Home , ACER3, ACSF3, Acylglycerol kinase, Adenylosuccinate lyase, Aldolase A, Aldolase B

643

Subject Index

J.-M. Saudubray et al. (Eds.), Inborn Metabolic Diseases, DOI 10.1007/978-3-662-49771-5 , © Springer-Verlag Berlin Heidelberg 2016 644 Subject Index

Acylglycines 96 Aldehyde oxidase 317 5-aminolevulinic acid 516 A – in FAO disorders 208 (ALDOA) deficiency – dehydratase 518 24 Adaptor -1 (AP1) 152 – dehydratase porphyria 518, Abetalipoproteinaemia 444, complex 536 162 519 448 Adenine 496 Aldose 140 – synthase 516, 518 Abnormal movements 40 Adenine phosphoribosyltrans- Alkaline 3 (ACER3) 5-aminolevulinic acid (5-ALA) Acanthocytosis 62 ferase 496 deficiency 556 dehydratase Aceruloplasminaemia 536, 540 – deficiency 503 Alkaline phosphatase deficiency – in Tyrosinemia 266 Acetoacetic acid 98 Adenosine 496 (TNSAP) 410 δ-aminolevulinic acid synthase Acetoacetyl-CoA thiolase 216, 496 Alkaptonuria 272 516 218 – deficiency 501 Alkylglycerol monooxygenase Amish epilepsy syndrome 555 Acetylation 337 – superactivity 501 252 Amish infantile epilepsy 617 Acetyl-CoA acetyltransferase Adenosine 496 Alloisoleucine 93, 95, 281 Amish lethal 405 457 – deficiency 314, 504 Allopurinol, in disorders Amish lethal microcephaly Acetyl-CoA carboxylase 278, 503 syndrome 227 376 (AMP) 496 Allopurinol (medication) 634 Ammonaps 301 Acetyl CoA glucosamine Adenosine monophosphate Allopurinol testing 299 Ammonia 296 N-acetyltransferase 581 deaminase deficiencies 498, Alopecia 55 Ammonia scavengers in Acetyl-CoA transporter, 499 Alpers-Huttenlocher syndrome metabolic emergencies 112 deficiency 536 Adenosylcobalamin (AdoCbl) 227, 229 AMP-activated α-N-acetylgalactosaminidase 386 Alpha-Amino Adipic Semial- 124 587 – deficiency 392 dehyde 95 AMP-activated protein kinase Acetylglucosaminyltransferase- Adenosylcobalamin and Methyl- Alpha-L- 581 (AMPK) deficiency 134 like protein 615 cobalamin Alpha tocopherol (medication) AMP deaminase 496 Acetyl isoleucine 96, 98 – combined deficiencies 389 641 Anandamide 486 Acetyl leucine 96, 98 Adenylate cyclase 5 Alveolar proteinosis 367 Anaplerosis 189 Acid ceramidase deficiency 504 Amidoxime reducing 62 566 1,2 deficiency component 317 Angiokeratosis 56 Acidosis treatment in metabolic 504 N-acyl Angioneurotic oedema 524 encephalopathy 111 Adenylosuccinase 496 – deficiency 472 Angiopoietin-like 449 Acid sphingomyelinase – deficiency 498 Amino acids 95 Anion gap 14 deficiency 559 496 Amino acids analysis 92 Antenatal Symptoms 6 Acid α-glucosidase deficiency Adenylosuccinate 496 Amino acid transport disorders Antiquitin 334 132 Adenylosuccinate synthetase 363 – deficiency 408 Aconitase 188 496 2-amino aciduria 338 AP-5 complex 5 Acquired biotin deficiency 380 Adipic acid 95, 98 1 deficiency Apo AV deficiency 444, 449 Acrocyanosis 57, 318 Adipocyte triglyceride lipase 345 Apocarboxylases 376 Acrodermatitis enteropathica (ATGL) 478 Aminoacylase 2 deficiency Apolipoprotein C-II deficiency 545 Adrenaline 422 345 444, 449 ACSF3 deficiency 291 Adrenal insufficiencies 30 Aminoacyl tRNA synthetases 5 Apolipoprotein C-III 611 Acute , in adults 85 Adult neuronal ceroidlipo- Aminoacyl tRNA synthetases Apolipoproteins 443 Acute hepatic porphyrias 518 fuscinosis 570 deficiencies 231 Apo-transferrin 537 Acute hyperammonaemia Adult polyglucosan body 2-aminoadipate aminotrans- Arabitol 156 297 disease 128, 135 ferase 334 Arachidonic acid 486 Acute intermittent porphyria Agalsidase alfa (medication) 2-aminoadipic-6-semialdehyde Arachidonoyl lyso-phosphati- 518, 519 634 dehydrogenase 334 dylinositol 487 Acute myelopathy, in adults 84 Agalsidase beta (medication) Aminoadipic-6-semialdehyde 1 296 Acute pancreatitis 59 634 synthase 334 Arginase 2 302 Acute polyneuropathies 77 Aglucosidase alfa (medication) 2-amino adipic acid 338 Arginase deficiency 299 Acute psychiatric symptoms 634 α-aminoadipic acid semial- Argininaemia 299 21 Aicardi Goutières syndrome dehyde (AASA) 408 Arginine 93, 95, 302 Acylcarnitines, in FAO disorders 18, 47, 50, 64 α-aminoadipic semialdehyde Arginine glycine amidinotrans- 207 AICA-Ribosiduria 498 dehydrogenase, deficiency ferase (AGAT) deficiency Acyl-CoA dehydrogenase 9 AICAR transformylase 496 408 245 (ACAD9), deficiency 206 Alacrimia 65 γ-aminobutyric acid (GABA) Arginine transporter 367 Acylglycerol-3- 93, 95 416 (ASL) O-acyltransferase 2 (AGPAT2) β-Alanine 98, 506 Aminoimidazolecarboxamide 296 deficiency 479 Alanine aminotransferase ribotide 496 – deficiency 299 Acylglycerol acyltransferases 296 Aminoimidazole carboxamide Argininosuccinate synthetase (AGPATs) 478 β-alanine synthase 508 ribotide (AICAR) 393 (ASS) 296 (AGK) 482 β-alanine transaminases 417 β-aminoisobutyrate 506 – deficiency 299 – deficiency 484 ALAS2, deficiency 517 β-Aminoisobutyric acid 98 Argininosuccinic acid 93, 95 645 A–C Subject Index

Arimoclomol 568 Autosomal dominant hyper- Bile glucuronides 470 Bratton-Marshall test 498 Aromatic L-aminoacid zincemia 546 Biocytin 376 Brittle hair 55 decarboxylase, deficiency Autosomal recessive chronic Biogenic amines, in PKU 253 Brown-Vialetto-van Laere 422 ataxia (ARCA) 85 Biopterin syndrome 211 Arrhythmias, conduction Autosomal recessive hyper- – disorders with hyperphenyl- Burst suppression 11, 351 defects 25 cholesterolaemia 443 alaninaemia 259 Butyrylcarnitine 290 Arterial tortuosity syndrome Autosomal recessive hypo- Biopterin Metabolism 261 (GLUT0 deficiency) 181 magnesemia 543 Biotin Cycle 376 Arthritis 68 Axonal neuropathy 52 Biotin-dependent carboxylases Arthrogryposis 12 376 C (ASA) 557 Biotin-dependent C4-acylglycines 318 – deficiency 564 376 C4-carnitine 290 Ascitis 26 B 376 C4-methyl sterol oxidase Aseptic meningitides 88 Bacterial choline TMA-lyase – deficiency 378 deficiency 460 Asparagine 93, 95, 609 430 Biotin (medication) 634 C5-acylcarnitine 290 Asparagine disorders 357 Barth syndrome 227, 484 Biotin-responsive disorders C5-hydroxyacylcarnitine 218 Asparagine metabolism 358 Basal ganglia deposits 47 375 C18/C20-1- 556 – in adults 79 Biotinylation of histones 376 CAD (carbamoylphosphate deficiency 361 Basal ganglia hyperintensities Biotinyl peptides 376 synthetase II, aspartate trans- Aspartame 255 47 Bis(monoacylglycero)-phosphate carbamylase, ) Aspartate 296 – in adults 79 (BMP) 483 505 Aspartate aminotransferase Batten disease 570 Bjornstad syndrome 227 Calcium folinate 261 296 BCAA-free amino acid mixture Blepharitis 65 Canavan Disease 344 Aspartate cycle 296 284 Blepharospasm 625 Cannabinoid receptors 486 Aspartate/glutamate BCKD phosphatase deficiency Blindness 46 Carbaglu 301 296 281 Bone crisis 26 Carbaglu (medication) 638 Aspartate-glutamate carrier 1 Beckwith Wiedemann Syndrome Bone dysplasia 66 Carbamoyl phosphate deficiency (SLC25A12) 346 171 Bone infarction 68 syn thetase 1 (CPS1) 296 Aspartate transcarbamylase Behavioral disturbances 45 Bone marrow examination – deficiency 297 506 Behavioural changes, in adults – in sphingolipidosis 558 Carbamoylphosphate Aspartate transporter 364 83 Bone marrow transplantation synthetase II 506 deficiency 345 Benzoquinone acetic acid 273 – in ADA 500 Carbidopa, in Biopterin defects 587 Berry spot test 583 – in ALD 564 260 586 Beta-1,3-glucuronyltransferase 3 – in Krabbe 563 Carbonic anhydrase 16 Assembly factors 232 615 – in Niemann-Pick type A 560 – deficiency 22 – defects classification 237 Beta-1,3-N-acetylgalactosamin- Bone necrosis 68 Carbonic anhydrase Va (CAVA) AT-1 deficiency 536 yltransferase 2 615 Boucher-Neuhauser syndrome 296 Ataxia 21, 39, 42 Beta-1,4- 486 – deficiency 305 Ataxia neuropathy spectrum 615, 617, 618 Boxing movements 8 Cardiac disease, in mitochondri- syndrome 227 Betaine 310, 316 Brachytelephalangy 410 al defects 239 Atkins diet 179 Betaine (medication) 634 Brain calcifications 47 Cardiac failure 13, 24 Atlanto-occipital subluxation Beutler test 142 Brain deposits 47 – emergency treatment 115 582 Bezafibrate, in FAO 210 Brain dysplasia 50 Cardiac glycogenosis 130, 133 ATP7A (copper transport in the B-galactoside α-2,3-sialyltrans- Brain glycogenosis 134 Cardiac presentation, in early hepatocyte) 532 ferase 3 618 Brain malformations 50 infancy 13 ATP7B (copper transport in the BH4, in PKU 255 Brain MRS Cardiac tamponnade 14 hepatocyte) 532 BH4 loading test, in PKU 259 – in creatine deficiency (CL) 482 ATP/ADP-sensitive potassium Bicarbonate in meta- syndromes 246 Cardiolipin remodeling channel 170 bolic acidosis 111 Brainstem hyperintensities 47 deficiency 484 ATP synthase 224 Bile acid Branched-chain 2-hydroxy acids Cardiolipin synthase (CLS) 483 Atransferrinemia 539 – glycine-conjugated 469 98 Cardiomyopathies 13, 25 Attacks of ataxia 20 – taurine-conjugated 469 Branched-chain 2-ketoacid Cardiomyopathy, in adults 86 Attacks of vomiting 18 Bile acid amidation defects 472 dehydrogenase complex Carglumic acid 301 Auriculo-condylar syndrome Bile acid CoA 472 278 Carnitine acylcarnitine 488 – amino acid N-acyl transferase Branched-chain 2-ketoacids 202 Auriculoventricular block 25 466 281 – deficiency 204 Austin disease 583 Bile acid CoA 466 Branched chain AA 93 Carnitine concentrations, in FAO Autistic behaviour 40 – deficiency 472 Branched-chain amino acid 208 Autopsy 105 Bile-acid-replacement therapy 278 Carnitine cycle defects 203 Autosomal dominant familial 468 Branched-chain keto acids 98 Carnitine palmitoyltransferase I hypercholesterolaemia (FH) Bile acid synthesis pathway Branched-chain organic (CPT I) 446 467 acidurias 277 – deficiency 204 646 Subject Index

Carnitine palmitoyltransferase II Childhood absence epilepsy CLN6 protein 569 Congenital erythrodermia 56 (CPT II) 420 CLN8 protein 569 Congenital erythropoietic – deficiency 204 CHILD syndrome 460 CMP-sialic acid transporter 618 porphyria 518, 521 Carnitine transporter 202 CHIME syndrome 617 Coagulopathy 12 Congenital hyperinsulinism – deficiency 203 Chitotriosidase 558, 560 Coarse facies 6 169 Carnitine treatment, in FAO Cholestanol 470 Cobalamin-A 392 Congenital lipodystrophy 479 210 Cholestatic jaundice 63 Cobalamin-B or adenosyltrans- Congenital lipomatosis 66 Carnosinase 419 – in early infancy 13, 17 ferase, deficiency 392 Congenital muscular dystrophy, Carpal tunnel disease 582 Cholesterol 466 Cobalamin-C 390 megaconial type 483 Cataracts 65 Cholesterol 7α-hydroxylase Cobalamin-D 391, 392 Congenital myasthenic Catatonia, in adults 83 466 Cobalamin disorders 385 syndrome 10 Cathepsin A, K 587 – deficiency 473 Cobalamin-E 392 Congenital myasthenic syn- Cathepsin D 569 Cholesterol ester storage Cobalamin-F 389 drome-12 (GFPT1-CDG) 617 Cavitating leukodystrophy 353 disease 445, 450 Cobalamin-G 392 Congenital progressive CCDC115 deficiency 620 Cholesterol (medication) 635 Cobalamin-J 390 65 CDG-X 536 Cholesterol synthesis pathway Cobalamin metabolism 386 Conjunctivitis 65 CDP-phosphocholine 457 Cobalamin transport 386 Conradi-Hünermann syndrome (CDP-PChol) 482 Cholestyramine (medication) Cobalamin transport by entero- 459 CDPX2 459 635 cytes 387 Continuous haemofiltration CEDNIK syndrome 5 Cholestyramine test 470 Cobalamin-X 391 113 Cephalalgia, in adults 77 Cholic acid 468 Cobalt of Cbl 386 COPII component SEC23B 618 Cephalhematomas 45 Cholic acid (medication) 635 Cockayne syndrome 47, 67 Copper 553 Choline catabolism 430 synthetase – metabolism pathway 532 552 (CHK) 482 deficiency 540 – requiring enzymes 535 -like (CERKL) Choline Kinase β (CHKβ) Coenzyme Q10 (CoQ10) – serum values 534 deficiency 556 deficiency 483 – biosynthetic defects 230 – storage disorders 536 Ceramide synthase 553 Choline-phosphate cytidylyl- – defects classification 237 – transporter (CTR1) 532 – deficiency 554, 555 transferase α (CCTα) Coenzyme Q10 (medication) – urinary excretion 534 Cerebellar ataxia 38, 42 deficiency 483 641 Copper histidine (medication) – in adults 84 Choline transferase 482 COG6 deficiency 620 635 Cerebellar syndrome 39 Chondrodysplasia punctata 68 COG complex defects classifica- Coproporphyrin 517 Cerebral deficiency 394 581 tion 618 Coproporphyrin I 522 Cerebral organic acid disorders Chondroitin β-1,4-N-acetyl- Coiled-coil domain-containing Coproporphyrin III 523 333 galactosaminyltransferase 1 protein 135 619 Coproporphyrinogen oxidase Cerebral palsy 36 (chondroitin synthase 1) Collagenopathies 57 518 Cerebro-ocular dysplasia- 615 Collybistin 420 Cord blood transplantation muscular dystrophy Chorea, in adults 78 Coma 18 – in Krabbe 563 syndrome 615, 616 Choreoathetosis 35, 40 – in adults 76 Corneal clouding 65 Cerebroside 553 Chronic 60 – in neonates 8 Corpus callosum hypoplasia/ Cerebroside β-galactosidase Chronic recurrent multifocal Combined lipase deficiency agenesis 50 deficiency 563 osteomyelitis 26, 480 445 Cowchock syndrome 227 Cerebrotendinous xantho- Chylomicron retention 448 Combined malonic and methyl- Cramps matosis 469 – disorder 444 malonic aciduria 291 – in adults 87 Ceruloplasmin serum values Chylomicrons 442 Complex I defects classification Creatine deficiency syndrome 534 CINCA syndrome 480 237 243 CGI-58 478 Cirrhosis 63 Complex II defects classification (CK) 244 Chanarin Dorfman syndrome Citrate synthase 188 237 Creatine metabolism 244 481 296 Complex III defects classification Creatine monohydrate (medica- Channelopathies affecting the – deficiency 303 237 tion) 635 KATP channel 172 Citrullinaemia type II 299 Complex IV defects classification Creatine-monohydrate supple- Charcot-Marie-Tooth disease Citrulline 93, 297 237 mentation 247 193, 338 Citrullinemia type II 303 Complex V defects classification Creatine phosphate 245 – in adults 77 CK syndrome in males 461 237 Creatine transporter (CRTR) Charcot-Marie-Tooth hereditary Classic hereditary hemochroma- Complex molecules disorders deficiency 245 neuropathy 231 tosis (type 1) 538 5 Creatinine 244 Charlevoix-Saguenay syndrome Classification of inborn errors 4 Conduction defects 25 Crotonase 334 227 – in neonates and early infancy Confusion, in adults 77 Crotonyl-CoA 340 Chenodeoxycholic acid 468 15 Congenital blindness 46 Cubam 387 Chenodeoxycholic acid Claudin-16 deficiency 542 Congenital disorders of glyco- Cubilin 387 (medication) 634 CLDN19 mutations 542 sylation (CDG) 609 Cutaneous porphyrias 517 Cherry red spot 51 CLN3 protein 569 Congenital dyserythropoietic Cutis laxa 57, 328 Child abuse 339 CLN5 protein 569 type II 618 Cutis laxa type II 619, 620 647 C–E Subject Index

Cyanocobalamin (CNCbl) 389 Danon disease 132 Dichloroacetate Dodecanedioic acid 98 Cyclic pyranopterin monophos- DDHD1 and DDHD2 mutations – in PDH 193, 194 Dodecenoyl-CoA delta iso- phate (cPMP) (medication) 487 Dichloroacetate (medication) merase 202 635 DDHD-domain-containing 635 kinase 618 Cyclocreatine 247 proteins 1 and 487 2,4-dienoyl-CoA reductase Dolichol metabolism defects CYP2U1 487 Deafness 45 deficiency 206 classification 618 Cystadrops 627 – in adults 87 Dihydrobiopterin (BH2) 252 Dolichol utilization/recycling Cystagon (medication) 635 – in mitochondrial defects Dihydroceramide 553 defects classification 618 Cystathionase 311 239 Dihydrofolate (DHF) 393 Dol-P-Man\ Cystathionine β-synthase (CBS) Deglycosylation disorders 621 393 – phosphatidylinositol manno- 311 Dehydration 22 – deficiency 395 syltransferase (1,2) 617 – deficiency 314 7-dehydrocholesterol 458 Dihydrolipoamide dehydroge- Dominant hypomagnesemia Cystathionine γ-lyase 311 8-dehydrocholesterol 458 nase deficiency 194 542 – deficiency 317 Dehydrocholesterol reductase Dihydrolipoamide dehydro- DOOR syndrome 195 Cystathioninuria 317 deficiency 458 genase E3 281 Dopa-decarboxylase inhibitor Cysteamine 624, 627 Dehydrodolichyl diphosphate Dihydrolipoamide trans- 260 Cysteamine bitartrate (Cystagon) 618 acetylase deficiency 192 Dopamine 422 627 Demyelinating neuropathy 52 Dihydrolipoyl acyltransferase E2 – in PKU 253 Cysteamine (medication) 635 – in adults 80 281 Dopamine-serotonin vesicular Cysteine 310 Dentate nuclei hyperintensities Dihydrolipoyl succinyl-trans- transport defect 421 Cysteine-cysteamine 624 50 ferase 195 defect Cysteinyl-1,4-dihydroxycyclo- Dentate nuclei hypertensities Dihydroorotase 506 (SLC6A3) 421 hexenylacetate 273 – in adults 79 Dihydroorotate dehydrogenase Dopamine β-hydroxylase Cystine 93, 624 Dent disease 2 488 506 – deficiency 423 Cystine content in leukocytes Deoxy-ceramides 554 – deficiency 507 Dopa-responsive (DRD) 626 Dihydropteridine reductase 424 Cystine crystal deposits 625 deficiency 504 (DHPR) 252 Dravet syndrome 420 Cystine/dibasic amino acid Deoxymethyl-sphinganine 506 Duarte variant transporter 364 554 – deficiency 508 142 Cystine/proton Deoxy-sphinganine 554 Dihydropyrimidine dehydro- Dysautonomia 88 pathway 624 Dermatan sulfate 581 genase 506 Dysmorphic features, in PDHC Cystinosin 624 Desmosterol reductase – deficiency 507 192 Cystinosis 624 – deficiency (Desmosterolosis) Dihydrothymine 507 Dysmorphism 7 365 461 Dihydrouracil 507 Dysostosis multiplex 579 Cytidine 506 Developmental arrest 40 Dihydroxyacetone phosphate Dysplasia, dysmorphism 6, 7 506 Developmental delay 32, 34 (DHAP) 152, 478 Dyspraxia 38 – deficiency 509 Dextromethorphan (medication) 2,8-dihydroxyadenine 503 Dystonia 7 Extrapyramidal signs Cytidine monophosphate 506 635 3,4-dihydroxy-butyric 96 – in adults 77, 78 Cytidine-triphosphate (CTP) 59 4,5-dihydroxyhexanoic acid 482 Diacylglycerol 478, 483 418 Cytochrome c 224 epsilon 4,5 dihydroxy-hexanoic lactone , COX (DGKE) deficiency 480 96 E 224 Diacylglycerol O-acyl transferase Dilated cardiomyopathy 25 E1 2-ketoacid dehydrogenase Cytochrome P450 enzyme 1 (DGAT1) deficiency 480 Dilated cardiomyopathy with 191 (CYP2) 487 Diagnostic procedures 91 ataxia syndrome 227 E1 kinase 191 Cytoplasmic FADS2 203 Diagnostic tests Dimethylglycine 433 E1 phosphatase 191 Cytoplasmic leucyl-tRNA – in neonatal emergencies 14 Dimethylglycine dehydrogenase E1α-subunit 193 synthetase 230 – in neurological syndromes deficiency 432 E1β-subunit gene 193 Cytosolic 5‘-nucleotidase super- 52 Dimethylmethylene blue dye E2, dihydrolipoamide acyltrans- activity 508 Diamond-Blackfan anaemia binding assay 583 ferase 191 Cytosolic Acetoacetyl-CoA 501 Dinitrophenylhydrasine (DNPH) E3-binding protein 191, 193 thiolase deficiency 220 Diazoxide test 14 E3 deficiency 194 Cytosplasmatic protein – in hyperinsulinism 172 Dipeptidase deficiency 436 E3, dihydrolipoamide dehydro- synthesis 5 Diazoxide (medication) 635 1,3 diphosphoglycerate 153 genase 191 Dibasic amino acid transporter Disodium calcium edetate E3 133 364 (medication) 639 Early infancy IEM presentation Dibasic cationic amino acids Disulfide cysteine-homo- 8 D transporter 367 cysteine 95 EBP deficiency in males 460 D-2-hydroxyglutarate dehydro- Dicarboxylic acids 95, 98 Divalent-metal transporter EBP encoding sterol Δ8-Δ7 genase deficiency 343 Dicarboxylic aminoaciduria DMT1 537 iso merase 459 D-2-hydroxyglutaric aciduria 370 D,L-3-hydroxybutyrate (medi- ECHS1 deficiency 291 343, 344 Dicarboxylic porphyrin 517 cation) 635 Ectopia lentis 65 648 Subject Index

EGF domain-specific O-GlcNAc Erythroderma 55 Fanconi syndrome 66, 624 10-formyl-THF 395 transferase 615 Erythrodontia 521 Farber disease 566 162 Ehlers-Danlos syndrome 57 Erythronic acid 157 Farnesyl-PP synthase 457 -1,6-biphosphate 151, Elastinopathies 57 Erythropoietic porphyrias 517 Fasting test 101 152 Electron carriers Erythropoietic protoporphyria Fatty acid 2-hydroxylase Fructose-1,6-bisphosphatase – in the respiratory chain 518, 524 deficiency (SPG35/FAHN) deficiency 165 224 163 555 Fructose-2,6-bisphosphate Electroneuromyographic ETF ubiquinone Fatty acid hydroxylase associated 166 findings 52 202 neurodegeneration 540 Fructose-6-phosphate 151 Electron transfer defects 206 Ethyleneglycol 96 Fatty acid oxidation disorders 165 Electron transfer flavoprotein 2-ethylhydracrylic 96 201, 300 Fructose metabolism 162 202 Ethylmalonic acid 95, 98 Fatty acid transport defects Fructose metabolism disorders Elevated transaminases 12, 16, Ethylmalonic aciduria 318 203 161 20, 26, 63 Ethylmalonic encephalopathy Ferrochelatase 518 Fructosuria 163 Elosulfase alpha (medication) 318 537 587 636 Ethylmalonic encephalopathy Ferroportin related hereditary 585 Emergency investigations 15 syndrome 227 hemochromatosis (type 4) Fumarase 188 Emergency management of Exercise intolerance, in adults 539 – deficiency 195 acute hyperammonaemia 85 Ferrous iron (Fe2+) 537 Fumaric 95 300 Exercise Intolerance 22 Fetal alcohol syndrome 6 Fumarylacetoacetase 266 Emergency treatments 109 Exercise Test 104 Fetal distress 12 Fumarylacetoacetate Encephalopathies Exostosin 1,2 615 Filipin test 568 deficiency 267 – in adults 76 Exostosis 68 Finnish type sialuria 586 Functional Tests 101 Endemic tyrolean infantile Extracorporeal toxin-removal Fish malodour syndrome 431 cirrhosis 536 procedures 113 Flaccid paraparesis 36 Endocannabinoid 2-arachi- Extra lipid peak at 1 H-MRS 48 Flavin adenine dinucleotide donoyl 486 Extrapyramidal signs 188, 202 G Endocrine involvement – in 1–5 years 38, 40 Flavin-containing mono- G6P translocase 125 – in mitochondrial defects – in 1–12 months 34, 35 oxygenase 430 GABA receptor mutations 420 239 – in 5–15 years 40 Flavin mononucleotide 203 GABA transaminase 416 Endocytotic trafficking 5 – in neonates 11 Flavins 224 – deficiency 417 Energy metabolism disorders 4 Eye disease Flippase of Man5GlcNAc2- Galabiosylceramide 557 deficiency 154 – in mitochondrial defects PP-Dol 610 Galactitol 140 Enoyl-CoA hydratase 278 239 18F-fluoro-L-DOPA positron Galactocerebrosidase 557 – deficiency 291 Eye movements 51 emission tomography 173 – deficiency 563 Entacapone 261 Ezetimibe (medication) 636 Foamy histiocytes 561 Galactocerebroside 557 Entacapone (medication) 636 Folate carrier 393 140 Enteral feeding in metabolic Folate disorders 385 – deficiency 145 emergencies 112 Folate malabsorption 394 Galactonate 140 Enzyme replacement therapy F Folate metabolism 393 -1-phosphate 140 – in ADA 500 F1F0 ATPase 224 Folate receptors (FRα and FRβ) Galactose-1-phosphate uridyl- – in Gaucher 558 Fabry disease 565 393 transferase 140 – in GSD II 132 Facial dysmorphism Folate transporter (PCFT) 393 – deficiency 141 – in MPS 584 – in MAD 206 Folic acid 393 Galactose dehydrogenase 140 Epilepsy 32 Facilitative transporters Folinic acid 261 Galactose (medication) 636 – in 1–5 years 38 (GLUTs) 176 Folinic acid (medication) 636 Galactose metabolism disorders – in 1–12 months 35 FADH2 (reduced flavin adenine Folinic acid responsive 139 – in 5–15 years 42 dinucleotide) 224 408 585 – in adults 81 FAD synthase 203 Formate 395 β galactosidase 581 – in emergency 19 – deficiencies 212 Formiminotetrahydrofolate α-galactosidase A deficiency – in mitochondrial defects Familial dysautonomia 423 cyclodeaminase 393 565 239 Familial hypercholesterolaemia Formylaminoimidazolecarbox- β-galactosidase deficiency – in neonates 8, 15 (FH) 443, 444 amide ribotide 496 561 Epilepsy, progressive Familial hyperphosphatemic Formylaminoimidazolecarbox- Galactosylceramide 552, 557 2a (EPM2A) 134 tumoral calcinosis 615 amide ribotide (FAICAR) Galactosylceramide-sulfate Epilepsy, progressive myoclonus Familial hypobetalipo- 393 564 2b (EPM2B) 134 proteinemia 444 Formylglycineamide ribotide Β-1,3-galactosyltransferase 6 , in adults 85 Familial -defective 444 (FGAR) 393 615 Epoxide intermediate Familial ligand defective apo-B Formylglycine-generating GALNT3 deficiency – in tyrosinaemia 273 443 enzyme 581 (GALNT3-CDG) 614 Epoxyoctanedioic 95 Fanconi-Bickel syndrome Formyltetrahydrofolate Galsulfase (medication) 636 Erythritol 158, 159 (GLUT2 Deficiency) 180 synthetase 393 553 649 E–H Subject Index

Gastro-intestinal disease 364 debrancher 124 GPI-HBPI 449 – in mitochondrial defects Glutamate transporter defect Glycogen depletion syndromes GRACILE syndrome 13, 227 239 – SLC25A22 420 133 Greenberg skeletal dysplasia Gastrointestinal presentations – SLC1A1 370 1 122, 124 462 – in early infancy 10 Glutamic acid decarboxylase – deficiency 133 Growth hormone deficiency 59 Gaucher disease 556 416 Glycogen metabolism 122 Guanidinoacetate 244 Gaze palsies 87 296 Glycogen Guanidinoacetate methyltrans- G-CSF (medication) 636 93, 296 – in 124 ferase (GAMT) deficiency GDP-fucose transporter 618 Glutamine\fructose 6-phosphate – in muscle 124 245 GDP-Man\ amidotransferase 1 618 kinase Guanidinoacetate-phosphate – Dol-P- Glutamine disorders 357 129 245 (1,2,3) (Dol-P-Man synthase Glutamine metabolism 358 Glycogen storage diseases Guanidino compounds 302 1,2,3) 618 deficiency 121 Guanine 496 Gelastic cataplexy 567 359 – Type 0 123 Guanosine 496 Gemfibrozil (medication) 636 γ-glutamyl cycle 434 – Type I 123 Guanosine diphosphate Genee-Wiedemann syndrome γ-glutamyl cyclotransferase – Type II 131 pyrophosphorylase 507 434 – Type III 127 (A,B) 610 Gene panels 104 Glutamylcysteine synthetase, – Type IV 128 Guanosine kinase 496 Gene therapy, in ADA 500 deficiency 433 – Type V 130 Gephyrin 311, 317, 420 γ-glutamyl transpeptidase, – Type VI 129 (GMP) 496 Geranyl-PP synthase 457 deficiency 435 – Type VII 151 Guanosine triphosphate cyclo- GlcNAc-phosphatidylinositol Glutaric acid 95, 98 – Type IX 129, 153 hydrolase-I deficiency 424 de-acetylase 617 Glutaric aciduria type I 339 – Type X 154 Guanosine triphosphate (GTP) Glioma 88, 344 Glutaric aciduria type II 206 – Type XI 155 252 Globoid cell leukodystrophy Glutaric aciduria type III 342 – Type XII 152 Guillain-Barré syndrome 562 Glutarylation 337 – in adults 77 552, 557 Glutarylcarnitine 340 – in liver 123, 124 Gunther disease 521 Globotri/tetraosylceramide Glutaryl-CoA 340 – in muscle 124, 133 Guthrie microbiological inhibi- 552, 557 Glutaryl-CoA dehydrogenase Glycolic 96 tion test 254 Glossitis 69 334 609 Gyrate atrophy of the choroid test 103 Glutathione (GSH) 433 disorders 131, 149 323 558 – disorders 433 Glycomacropeptide, in PKU Gyration abnormalities 50 Glucocerebroside 557 , 255 170 deficiency 434 585 Glucose-6-phosphatase 124 -3-phosphate – oligosaccharide chain Glucose-6-phosphate trans- 152 structure 585 H porter 124 Glyceric 96 – storage disorders 585 Haem arginate 520 Glucose/galactose malabsorp- Glycerol 478 (GAGs) Haem arginate (medication) tion (SGLT1 deficiency) 177 Glycerol-3-phosphate 478 578 637 Glucose transport disorders Glycerol-3-phosphate dehydro- 553 Haematin 520 175 genase 1 32 Haematin (medication) 637 -1 deficiency – deficiency 479 Glycosylphosphatidylinositol Haematological disease (GLUT1 deficiency) 178 deficiency (GKD) (GPI) anchors 609 – in mitochondrial defects Glucose transporters 176 155 – ethanolamine phosphate 239 Glucosylceramide 552, 553, 557 Glycerol phenylbutyrate 301 transferase (1,3) 617 Haem biosynthetic pathway Glucosylsphingosine 558 Glycerolphosphate acyltrans- – synthesis defects classifi- 516 (1,2) 610 ferases (GPATs) 478 cation 617 – disorders 515 – deficiency 612 Glycine 94 553 Haem groups of cytochromes β glucuronidase 581 Glycine cleavage enzyme Glycosyltransferases defects 224 Glucuronidated dihydroxychola- 350 618 Haemin 520 noic acid 472 Glycine encephalopathy 349 GM1 557 Haemin (medication) 637 GLUT1 deficiency 178 Glycine (medication) 636 GM1 gangliosidosis 560 Haemodialysis 113 GLUT2 deficiency 180 Glycine N-methyltransferase GM2 gangliosidosis 561 Haemoproteins 516 GLUT10 deficiency 181 310 GM2/GD2 synthase deficiency Haemoxygenase 537 Glutaconyl-CoA 340 – deficiency 313 555 Haptocorrin (R binder) 387 Glutamate dehydrogenase Glycinergic receptors 353 GM3 ganglioside 557 – deficiency 388 170, 296 Glycinergic synapse 419 GM3 synthase deficiency 555 369 Glutamate formiminotrans- Glycine transamidinase 322 Golgi α1-2 1 Hawkinsin 273 ferase 393 Glycine transporters 419 610 Hawkinsinuria 273 – deficiency 396 Glycocholic acid (medication) – deficiency (MAN1B1-CDG) beat disorders 24 Glutamate receptor mutations 636 614 Heart transplant, in GSD IV 128 420 Glycogen brancher 124 Gordon-Holms syndrome 486 HELLP syndrome 61 650 Subject Index

Hematopoietic stem cell HMG-CoA reductase inhibitor 2-hydroxy-3-methylvaleric acid 4-hydroxy-phenyllactic acid transplantation – in cholesterol 7α-hydroxylase 98 98 – in MPS 584 deficiency 473 3β-Hydroxy-Δ5-C27-steroid 4-hydroxy-phenylpyruvate Hemochromatosis 538 HMG-CoA synthase 457 dehydrogenase dioxygenase 266, 271 Hemojuvelin 537 HNF1A – deficiency 467 – deficiency 273 Hemolytic uremic syndrome – in hyperinsulinism 170 4-hydroxy-6-methyl-2-pyrone 4-hydroxy-phenylpyruvic 98 66 HNF4A 218 Hydroxyprolinuria 370 Hemophagocytosis 62, 64 – in hyperinsulinism 170 3-hydroxyacyl-CoA dehydro- 3-hydroxy-propionic 96, 98, Heparan-N-sulfatase 581 Holocarboxylase synthetase genase 202, 334 282, 379 581 376 – deficiency 206 3-hydroxy-sebacic acid 98 Hepatic coma 20 – deficiency 378 2-hydroxyacyl CoA lyase 3-hydroxy-suberic acid 98 Hepatic dysfunction Holo-transferrin 537 apoproteins 402 3-hydroxy-tetradecanedioic 98 – in mitochondrial defects Homoarginine 338 2-hydroxy-adipic acid 98 Hydroxytryptophan (medication) 239 Homocarnosine 416 3-hydroxy-adipic acid 98 637 Hepatic glycogenosis 123 Homocarnosinosis 418 γ-hydroxybutyrate 418 ω-hydroxy ultra-long chain fatty Hepatic porphyrias 517 Homocitrulline 95 3-hydroxybutyrate dehydro- acid 552 Hepatic presentations Homocitrullinuria 303, 325, genase 216 3β-hydroxy-Δ5-C27-steroid – acute in neonates and early 327 3-hydroxy-butyric acid 96 dehydrogenase/ infancy 10, 16 Homocysteine 310 4-hydroxy-butyric acid 96, 98 466 – chronic 63 Homocystine 94 7α-hydroxycholesterol 467 Hyperactivity 40 – emergency in childhood 20, Homocystinuria 389 27-hydroxycholesterol 472 Hyperammonaemia 30, 297, 26 Homogentisate 272 4-hydroxycyclohexylacetate 303, 325 Hepatic triglyceride lipase 442 Homogentisate dioxygenase 273 – diagnostic algorithm 300 Hepatic tumors, in GSD 125 266 3-hydroxy-dicarboxylic acids Hyperdibasic amino aciduria Hepatocellular necrosis 12 Homogentisic 96 96, 98, 217 327 Hepato-erythropoietic porphyria Homoplasmy 232 Hydroxydicarboxylic acids 343 Hyperekplexia 419 518, 523 Hormone-sensitive lipase (HSL) 3-hydroxy-dodecanedioic acid Hyperglycinemia 10, 63 478 98 – in pyridox(am)ine 5-phosphate Hepatorenal tyrosinaemia 267 – deficiency 481 Hydroxyeicosatetraenoic (HETE) oxidase deficiency 351 Hepatosplenomegaly 17, 63 H-protein 350 acids 487 Hyperglycinemia (diagnostic Hepcidin 537 (MPS II) 582 2-hydroxyglutarate dehydro- approach) 353 Heptacarboxyl porphyrin 522 HUPRA syndrome 227 genase deficiency 343 Hyper-IgD and periodic fever Hereditary coproporphyria Hurler-Scheie syndrome 2-hydroxy-glutaric acid 96, 98 syndrome 457 518, 523 (MPS IH-S) 582 3-hydroxy-glutaric acid 96, 98 Hyper-IgM syndrome 509 Hereditary fructose intolerance (MPS IH) 5-hydroxyhexanoic acid 217 Hyperinsulinism 163 582 2-hydroxy-isobutyric acid 98 – diffuse form 171 Hereditary inclusion body Hyaluronic acid 581 3-hydroxy-isobutyric acid 96, – focal form 171 myopathy (GNE-CDG) 616, 581 98 – in tyrosinaemia 267 618 Hydramnios 12 3-hydroxyisobutyric acid – isolated congenital 171 Hereditary multiple exostoses Hydrogen sulfide (H2S) 311, dehydrogenase 278 – syndromic 171 (EXT1/EXT2-CDG) 614 318 3-hydroxyisobutyric aciduria – transient neonatal 171 Hereditary sensory and auto- α,β-hydrolase domain-contain- 290 Hyperinsulinism-hyper- nomic neuropathy HSAN1 ing 5 (ABHD5 or CGI-58) 3-hydroxyisobutyryl-CoA ammonaemia syndrome 553 deficiency 481 deacylase 278 300 Heteroplasmy 232 α/β hydrolase domain-contain- 2-hydroxy-isocaproic acid 98 Hyperkeratosis 55 Heterozygous LDL-receptor ing protein 12 (ABHD12) 2-hydroxy-isovaleric acid 96 Hyperkinetic hemodynamic mutation 446 deficiency 485 3-hydroxy-isovaleric 96, 98, state 25 Hexanoylglycine 96, 98 Hydrops – ectopic calcification – 218, 282, 379 Hyperlactatemia 28 Hexosamine residues 578 moth-eaten (HEM) skeletal 3-hydroxyisovalerylcarnitine Hyperleucocytosis 62 deficiency dysplasia 462 218, 379 Hyperlipidaemia type 1 444 561 Hydroxocobalamin (medication) Hydroxylysine catabolism 334 Hyperlysinaemia 337 HFE 537 637 334 Hyperornithinaemia 303, 323, HHH syndrome 303, 325 Hydroxocobalamin (OHCbl) Hydroxylysinuria 338 325 Hiccups 8 386 Hydroxymethylbilane 521 Hyperostosis 68 High-density lipoprotein (HDL) 3-hydroxy-3-methylglutaric 97, Hydroxymethylbilane synthase Hyperphenylalaninaemia 442 218 520 251 Hirsutism 55 3-hydroxy-3-methylglutaryl-CoA 2-hydroxy-n-butyric acid 98 Hyperphenylalaninaemia and Histidine 94 lyase 278 3-hydroxy-n-butyric acid 96, disorders of biopterin HMG-CoA 216 3-hydroxy-3-methylglutaryl 98 metabolism 259 HMG-CoA lyase deficiency 217, coenzyme A (HMG-CoA) 4-hydroxyphenyl-acetate 271 Hyperphosphatasia 11 218 216 4-hydroxy-phenylacetic acid Hyperphosphatasia-mental HMG-CoA reductase 457 – synthase deficiency 217 98 retardation syndrome 410 651 H–L Subject Index

Hyperprolactinaemia, in PKU Inborn errors of intermediary Isocitrate dehydrogenase 1 Knoevenagel condensation 261 metabolism 4 deficiency 343 408 Hyperprolactinemia 422 Inborn errors of metabolism Isocitrate dehydrogenase 2 Krabbe disease 562 Hyperprolinaemia Type I 328 in adults 71 deficiency 343 Krebs cycle derivatives 98 Hyperprolinaemia Type II Indian childhood cirrhosis 536 Isocitrate dehydrogenase (IDH3) Krebs cycle disorders 196 329, 409 Indole compounds 369 188 Kufor-Rabek syndrome 541, Hyperthyroidism 59 Infantile free sialic acid storage – deficiency 196 570 Hypertonic episodes 8 disease 586 Isocoproporphyrinogen 522 Kufs disease 570 Hypertriglyceridaemia 449 Infantile myoclonic epilepsy 420 Isoleucine 93, 278 Kuvan 255 Hyperuricaemias 31 Infantile neuroaxonal dystrophy Isopentenyl-PP isomerase 457 Hyperventilation attacks 68 (INAD) 486, 540 Isoprenoid synthesis pathway Hyperzincemia with hyper- Inflammatory bowel disease 457 calprotectinemia 546 – in GSD 126 Isovaleric acid 282 L Hypoacetylaspartia 346 Inflammatory dermatosis 58 Isovaleric aciduria 279 L-1-piperideine-6-carboxylate Hypocalcemia 11 Inflammatory syndrome 64 Isovalerylcarnitine 282 (P6C) 408 Hypocholesterolemia 61 Inguinal and umbilical hernia Isovaleryl-coenzyme A dehydro- L-2-hydroxyglutaric aciduria Hypochromic microcytic anemia 580 genase 278 342, 344 with iron overload type 1,2 Inorganic sulfur 311 Isovalerylglycine 97, 98 Laboratory tests for porphyrias 539 Inosine monophosphate (IMP) 519 Hypodontia 69 496 Lactate 380 Hypoglycemia 28, 29 Inosine triphosphatase 28 Hypogonadism sterility 59 deficiency 505 J Lactate dehydrogenase (LDH) Hypomagnesaemia 11 Inositol polyphosphate-5-phos- Jansky-Bielschowsky 569 deficiency 155 Hypomagnesemia phatase 488 Jaundice 12 Lactate/pyruvate ratio 99 – with Hypercalciuria and Inositol polyphosphate phos- Joint contractures 68 95, 97 nephrocalcinosis 542 phatase-like 1 488 Jordan’s anomaly 481 Lactic acidosis 28, 100 – with secondary hypocalcemia Insulin in metabolic emergencies Juvenile hereditary hemochro- Lactosylceramide 552, 557 541 112 matosis (type 2) 539 Lactosylceramide α-2,3-sialyl- Hypomyelination 48 Insulin (medication) 637 Juvenile neuronal ceroid lipo- transferase (GM3 synthase) Hypoparathyroidism 59 Insulin secretion 170 fuscinosis 570 617 Hypophosphatasia (congenital) Intermediate density lipoprotein 134 410 (IDL) 442 Laforin/malin defects 134 Hypopigmentation 58 Interstitial pneumopathy 68 LAMP2 124 Hypothyroidism 59 Intestinal obstruction 61 K – deficiency 132 12 Intoxication disorders 4, 8 Kabuki syndrome 171 Large amplitude 8 – in neonates 10 Intracranial hypertension 19 Kayser-Fleischer rings 533 Large neutral amino acids Hypotonia-cystinuria syndrome Intractable seizures Kearns-Sayre syndrome (KSS) (LNAA), in PKU 256 10, 365 – emergency treatment 115 227, 230 L–arginine (medication) 637 Hypouricaemias 31 Intrauterine growth retardation Kennedy pathway 482 Laronidase (medication) 637 Hypoxanthine 496 6 Keratan sulfate 581 LARS 230 Hypoxanthine-guaninephos- Intrinsic factor deficiency 387 Ketamine (medication) 637 L-aspartate N-acetyltransferase phoribosyl transferase Iridodonesis 314 Ketoacidosis 27, 28 deficiency 346 (HGPRT) 496 Iron α-ketobutyrate 310 L-aspartyl-L-phenylalanine – deficiency 502 – deficiency disorders 539 7-ketocholesterol 560 methyl ester 255 – metabolism 537 Ketogenesis disorders 215 Lathosterolosis 461 – overload syndromes 538 Ketogenic diets 220 Laurence-Moon syndrome 486 Iron protoporphyrin 516 – in PDH 194 Laxity 58 I Iron-refractory iron deficiency – in GLUT1 deficiency 179 L-carnitine in metabolic I-Cell disease 586 anemia (IRIDA) 539 2-ketoglutarate dehydrogenase emergencies 113 Ichthyosis 55 Iron-sulfur 311 complex 188 L-carnitine (medication) 637 Idiopathic copper toxicosis 536 Iron sulfur cluster biogenesis – deficiency 195 LCAT deficiency 445, 449 Iduronate-2-sulfatase 581 disorders 352 – thiamine responsive 405 L-citrulline (medication) 637 Idursulfase (medication) 637 Iron sulfur cluster biogenesis 2-ketoglutaric acid 97, 98, 405 L-dihydroxyphenylserine 423 Imerslund-Gräsbeck syndrome 350 Ketohexokinase A 163 LDL receptors 442 387 Iron-sulphur (FeS) cluster 225 Ketohexokinase C 163 L-dopa Imiglucerase (medication) 637 – defects classification 237 Ketolysis disorders 215 – in hydroxylase Iminoacid transporter (SLC6A20) Ischaemic , in adults 77 98 deficiency 422 370 Isobutyrylcarnitine 290 28 L-dopa (medication) 638 370 Isobutyryl-CoA dehydrogenase Ketosphinganine 553 Leber hereditary optic neuro- IMP cyclohydrolase 496 278 Ketotic hypoglycemia 28, 29 pathy 227, 230 IMP dehydrogenase mutation – deficiency 290 transplantation, in MMA Lecithin cholesterol acyl 504 Isobutyrylglycine 98 287 transferase 445 652 Subject Index

Leigh syndrome 47, 226, 227 – in GSD IV 128 Macular colobomata 65 Megalencephalic leukodystrophy – French Canadian variant – in MMA 287 (medication) 638 with subcortical cysts 48 227 – in MSUD 285 Magnesium metabolism 541 MEGD(H)EL syndrome 227, 485 – in mitochondrial defects – in PC 190 Majeed syndrome 480 Melanin 239 – in PKU 255 Malate 95 – in PKU 253 Lennox-Gastaut syndrome 420 – in TALDO deficiency 158 Malate dehydrogenase 188 MELAS syndrome 228, 230 Lenz-Majewski hyperostotic – in tyrosinaemia 270 Maleylacetoacetae isomerase MEMSA syndrome 228, 230 dwarfism 483 – in urea cycle disorders 301, deficiency 274 Menkes disease 535 Lesch-Nyhan syndrome 502 303 Maleylacetoacetate 266 Mental retardation 32 Lethargy 18 – in Wilson disease 535 Malformations 6, 7 Mental storage disorders Leucine 93, 278 L--HCl (medication) 638 Malignant glioma 343 – in adults 79 Leucodystrophy 48 L-malate dehydrogenase 343 Malonic 97 Mercaptopropionylglycine Leucopenia 62 Long-chain 3-hydroxyacyl-CoA Malonic aciduria 291 (medication) 638 Leukodystrophy dehydrogenase (LCHAD) Malonylation 337 3-mercaptopyruvate sulfurtrans- – in mitochondrial defects 202 Malonyl-CoA decarboxylase ferase 311 239 – deficiency 205 278 3-mercapto sulfurtransferase Leukoencephalopathy, in adults Long-chain enoyl-CoA hydratase Malonyl-CoA synthetase 291 318 79 202 Mandelic 98 MERRF syndrome 228, 230 Leukoencephalopathy with Long-chain ketoacyl-CoA Manganese and zinc transporter Metabolic acidosis 14, 27 thalamus and brainstem thiolase 202 defect 620 Metabolic coma 18, 19 involvement 227 L-ornithine (medication) 638 Manganese metabolism 543 Metabolic distress, in neonates Limb girdle congenital Low-arginine diet, in OAT 325 – deficiency syndromes 543 14 myasthenic syndrome 618 Low-density lipoprotein (LDL) – toxicity 543 Metabolic encephalopathy, Limb girdle muscular dystrophy 442 – transporter defect 544 in neonates 8 65 Low-density lipoprotein meta- Manganism due to mutations in Metabolic investigation 92 Lipid droplets lipolysis 478 bolism disorders 444 SLC30A10 543 Metabolic profile over the Lipid defects Lowe oculocerebrorenal Mannose-6-phosphate recogni- course of the day 92 617 syndrome 488 tion marker 585 Metabolomic approaches 100 442 Lowe syndrome 67 Mannose (medication) 638 Metachromatic leukodystrophy Lipin-1 deficiency 479 Low-lysine diet, in GA1 341 Mannosephosphate isomerase 563 Lipin-2 deficiency 480 Low purine diet 497 610, 612 Metalloporphyrin 516 Lipoate deficiency disorders L/P ratio 28 α mannosidase 587 Metal transport and metabolism 349 L-protein 350 β mannosidase 587 disorders 532 Lipoate synthase (LIAS) deficiency L- (medication) 638 585 Methenyltetrahydrofolate cyclo- 350 Lysine 94 Mannosyl-oligosaccharide hydrolase 393 Lipodystrophy 58, 481 Lysine acylation 337 glycosidase (glucosidase 1) Methionine 94, 310, 393 Lipoic acid 191 Lysine catabolism 334 610 Methionine-restricted diet Lipolysis pathway 478 Lysine transcarbamylase 322 Mannosyltransferase 1 610 316 Lipomatosis 58, 66 Lysine transporter 367 – deficiency 613 Methionine S-adenosyltrans- Lipopigments 568 Lysinuric protein intolerance Mannosyltransferase (2, 4-9) ferase, deficiency 311 Lipoprotein disorders present- 300, 367 610 Methionine S-adenosyltrans- ing in childhood 443 Lysophosphatidic acid (LPA) Man-P-Dol utilization 1 618 ferases 310 Lipoprotein lipase deficiency 478, 482 Maple syrup urine disease Methionine synthase 389, 393 444, 448 Lysosomal acid lipase (LAL) (MSUD) 279 Methionine synthase apoen- Lipoprotein Lp(a2) 442 deficiency 453 Maroteaux-Lamy syndrome zyme deficiency (CblG) 394 Lipoprotein metabolism 442 Lysosomal-associated (MPS VI) 582 Methionine synthase reductase – disorders 441 2 124, Maternally inherited diabetes deficiency (CblE) 392 Lipoproteins 443 132 and deafness 228, 231 2-methyl-3-hydroxybutyrate Lipoyltransferase 1 (LIPT1) Lysosomal α-1,4-glucosidase Maternal PKU 258 282 deficiency 350 124 Matriptase-2 537, 539 2-methyl-3-hydroxybutyric 97 Lipoyltransferase 2 (LIPT2) Lysosome disorders 552 Maturity onset diabetes of the 2-methyl-3-hydroxybutyryl- deficiency 350 Lysosphingolipids 553 young (MODY) 171 carnitine 218 Liver failure 10, 12, 16, 20, 26, 63 Lysyloxidase 535 McArdle disease 130 2-methyl-3-hydroxybutyryl-CoA – emergency treatment 114 Medications used in the treat- dehydrogenase 278 Liver steatosis 13, 63 ment of inborn errors 633 – deficiency 290 Liver transplant Medium-chain acyl-CoA 2-methyl-3-ketobutyric 98 – in acute intermittent M dehydrogenase (MCAD) 2-methylacetoacetyl-CoA 219 porphyria 521 Mabry syndrome 410 202 2-methylacetoacetyl-CoA – in citrin deficiency 305 Macrocephaly 46 – deficiency 205 thiolase 278 – in ethylmalonic encephalo- Macroglossia 69 Medium-chain ketoacyl-CoA α-methylacyl-CoA racemase pathy 318 Macrophage activating syndrome thiolase 202 466 – in GSD I 127 64 MEDNIK syndrome 536 – deficiency 471 653 L–N Subject Index

2-methylbutyryl-CoA 290 Mitochondrial Monoamine metabolism 421 Myopathy 2-methylbutyryl-CoA dehydro- – defects classification Monoamine oxidase – in adults 85 genase 237 – deficiency 423 – in mitochondrial defects – deficiency 290 – homeostasis defects classifi- Monoamino-dicarboxylic 239 2-methylbutyrylglycine 98 cation 238 amides 369 – progressive 65 Methylcitrate 98, 282, 379 – myopathy 231 Monocarboxylate transporter deficiency Methylcobalamin (MeCbl) – nuclear gene defects 232 170 130 386 – recessive ataxia syndrome Monocarboxylate transporter 1 – deficiency 392 228 216 3-methylcrotonyl-CoA carbo- – syndromes 227 – deficiencies 218 xylase 278, 376 Mitochondrial acylcarrier Monogenic lipoprotein N 3-methylcrotonylglycine 97, protein (mt.ACP) 350 disorders N-acetylaspartate 98 98, 379 Mitochondrial DNA 231 – in childhood 444 N-acetylaspartic aciduria 344 3-methylcrotonyl Glycinuria – deletions 237 Monohexosylceramides 556 N-acetylcystathionine 317 288 – depletion syndrome 227, Monohydroxy bile acids 472 N-acetylgalactosamine 552, Methylenetetrahydrofolate 229, 237, 504 Monolysocardiolipin acyl 557 dehydrogenase 393 – maintenance defects 232 transferase 483 N-acetylgalactosamine-4-sulfa- – deficiency 395 – mutations 232 Mono-neuropathy 80 tase 581 Methylenetetrahydrofolate – replication 231 synthesis N-acetylgalactosamine-6-sulfa- reductase 393 – replication defects classifi- defects 618 tase 581 – deficiency 396 cation 237 Morquio disease (MPS IV) N-acetylglucosamine-6-sulfa- 5,10-methylene-THF 395 – transcription 231 582 tase 581 Methylene-THF-dependent – transcription defects classifi- Motoneuron disease 37, 38 N-acetylglucosaminidase thymidylate synthesis 395 cation 237 – in adults 80 581 Methylfolate derivates 393 – translation 231 Mouth ulcers 69 N-acetylglucosaminyltrans- 3-methylglutaconic 97, 98, – translation defects classifi- Movements disorders 78 ferase 2 610 218 cation 237 – in adults 77 N-acetylglutamate synthase 3-methylglutaconic aciduria Mitochondrial FADS1 203 MPC1 mutations 197 296 289 Mitochondrial FAD transporter MPS IX (hyaluronidase N-acetylglutamate synthase 3-methylglutaconyl-CoA deficiencies 212 deficiency) 582 (NAGS) hydratase 278 Mitochondrial fatty acid Mucolipidoses – deficiency 297 – deficiency 289 metabolism 202 – classification 587 N-acetyl-neuraminic acid 552, 3-methylglutaric acid 218 Mitochondrial fatty acid – type I to IV 586 557 Methylmalonic 97, 98 synthesis (mt.-FAS II) 350 Mucolipin-1 587 N-acetyltyrosine 98, 271 Methylmalonic acid 282 Mitochondrial neurogastro- Mucopolysaccharides 578 NADH/NAD ratio 29 Methylmalonic aciduria 279, intestinal encephalomyo- Mucopolysaccharidoses 579 NADH (reduced nicotinamide 389 pathy (MNGIE) 508 – classification 581 dinucleotide) 224 Methylmalonic semialdehyde Mitochondrial protein asso- Mudd’s Disease 311 NADH-ubiquinone oxidoreduc- dehydrogenase 278 ciated neurodegeneration Multicystic leukoencephalo- tase 224 Methylmalonyl-CoA epimerase 540 pathy 317 N-arachidonoylethanolamine 283 Mitochondrial ribosomes 231 Multiple cartilaginous exostoses (anandamide) 486 Methylmalonyl-CoA mutase Mitochondrial trifunctional pro- 615 NARP syndrome 228, 230 278, 389, 392 tein (MTP) 202 Multiple sulfatase deficiency n-Butyrylglycine 98 5-methyltetrahydrofolate 393 – deficiency 205 583 N-carbamoylglutamate in meta- – (medication) 638 Mitochondrial uncoupling Multivesicular body protein 5 bolic emergencies 113 Metronidazole (medication) protein 2(UCP2) 170 Munchausen by proxy 30 – (medication) 638 638 MLASA sydrome 228 Muscle-eye-brain disease 615, N-carbamyl-L-glutamate 301 457 Mn and Zn influx symporter 616 N-carbamyl-β-aminoisobutyric – deficiency 457 (ZIP8) 619 Muscle glycogenosis 130, 133 acid 508 Mevalonate-P kinase 457 MNGIE syndrome 228, 230 Muscle GSD Type 0 133 Near-miss death 22 Mevalonate-PP decarboxylase Mohr-Tranebjærg syndrome Myasthenic syndrome 10 Neonatal hemochromatosis 457 228 Myoadenylate deaminase 498 539 Mevalonic 98 Molecular genetic investigations Myoclonia 38 Neonatal hypoglycaemia Mevalonic aciduria 457 – in mitochondrial disorders Myoclonic ataxia – emergency treatment 114 Mevalonolactone 98 238 – in adults 85 Neonatal IEM presentation 8 MFSD8 569 Molybdenum cofactor 311 Myoclonic epilepsy with ragged Nephrocalcinosis 66 Microcephaly 46 – deficiency 317 red fibres (MERRF) 228, Nephrolithiasis 66 Microcornea 65 – synthesis 311 230 Nephropathy (tubulo-interstitial) MIDD syndrome 228 Molybdopterin 317 Myoclonic jerks 8 66 Miglustat (medication) 638 Monoacylglyceride hydrolase Myoclonus Nephrotic syndrome 66 Miller syndrome 507 478 – in adults 78 Nerve conduction velocity 52 MIRAS syndrome 228 Monoacylglycerol 483 Myo-inositol 157 Neu-Laxova syndrome 359 654 Subject Index

α 587 Niemann-Pick disease O-glucosylglycans 609 Oxidosqualene sterol cyclase – deficiency 586 – type A 559 – synthesis defect 615 457 Neurodegeneration associated – type B 559 O-glycans 609 2-oxo-3-methylvaleric 96 with brain iron accumulation – type C 566 Oligosaccharides 585 2-oxo-adipic 98, 338 (NBIA) 47, 486, 540 N-isovalerylglycine 282 Oligosaccharidoses 2-oxoadipic aciduria 338 Neuroferritinopathy 540 Nitisinone – classification 587 2-oxoglutarate dehydrogenase- Neuroimaging signs 46 – in alkaptonuria 273 Oligosaccharyltransferase like complex 334 Neurological coma 18, 19 – in tyrosinaemia 269 608 2-oxo-isocaproic 96 Neurological deterioration 32 Nitisinone (medication) 639 – subunits 610 2-oxo-isovaleric 96 – in neonates 8, 15 Nitric oxide (NO) 302 Oliver-McFarlane syndrome 5-oxoprolinase, deficiency 436 – metabolic encephalopathy Nitric oxide synthase 252 486 5-oxoproline 98, 434 11 N-methyl-D-aspartate (NMDA) O-mannosylglycans 609 5-oxoprolinuria, secondary 436 Neuronal ceroid lipofuscinoses receptor 353 – synthesis defects 615 Δ4-3-oxosteroid 5β-reductase, 568 1H-NMR spectroscopy of body O-N-acetylgalactosaminyl- deficiency 468 Neuro-ophtalmological signs fluids 100 glycans 609 Δ4-3-oxosteroid-5β-reductase 46 Nodules (skin) 57 – synthesis defect 615 466 Neuropathy Nogo-B receptor (subunit of Onco-metabolite 344 OXPHOS – acute 80 cis-prenyltransferase 618 Open fontanelles 586 – activity investigation 236 Neuropathy target esterase Non/hypo ketotic hypoglycemia Ophtalmoplegia 51 – deficiency classification 237 (NTE or PNPLA-6) deficiencies 29 Opisthotonus 8 – subunit defects classification 486 Nonketotic hyperglycinemia Opsismodysplasia 488 237 Neurophysiological signs 52 349 Optic atrophy 51 O-xylosylglycans 609 Neurotransmission disorders Nonlysosomal β-glucosidase Optic atrophy type 1 227 – synthesis defects 615 415 GBA2 deficiency 555 Optic nerve disorders O-xylosyl/N-acetylgalactosami- Neurotransmitter receptors Noradrenaline 422 – in adults 87 nylglycan synthesis defect defects 419 Norepinephrine Oral glucose loading test 103 615 Neurotransmitter transporters – in PKU 253 Organelle-related disorders Oxysterol 7α-hydroxylase 466 defects 419 Norrie disease 424 551 – deficiency 471 Neutral amino acid transporter Norum-Gjone 449 Organic acids analysis 92, 95 Oxysterols cholestane-3β,5α,6β- 364 NO synthase 302 Organophosphorus compound triol 560 Neutral amino acid transporter, NPC2 protein 567 intoxication 486 B(0)AT1 (SLC6A19) 364, 369 5‘-nucleotidase 496 Ornithine 94 Neutral lipid storage diseases -sugar transporters Ornithine aminotransferase (NLSDs) 481 defects classification 618 deficiency 300, 323 P Newborn screening Nutritional niacin deficiency Ornithine/citrulline antiporter Pain in extremities 26 – for homocystinuria 315 369 296, 322 Palmitoyl protein thioesterase 1 – in hyperglycinemia 353 Ornithine disorders 321 569 – in 5-oxoprolinuria 435 Ornithine metabolism 322 Pancreatic involvement – in biotinidase deficiency Ornithine transcarbamylase – in mitochondrial defects 378 O (OTC) 296 239 – in FAO disorders 209 Occipital horn syndrome 535 – deficiency 297 – in organic acidemias 281 – in glutaric acid 340 Ochronosis 272 Ornithine transporter 367 Pancytopenia 62 – in HHH syndrome 327 Octacarboxylic porphyrin Ornithine-δ-aminotransferase -associated – in HMG-CoA lyase deficiency 517 322 neurodegeneration (PKAN) 218 Octreotide Ornithine ω-aminotransferase 540 – in Krabbe 563 – in hyperinsulinism 173 296 PAPA syndrome 480 – in MSUD, MMA, PA, IVA 283 Octreotide (medication) 639 Orotate phosphoribosyltrans- Paraplegia 36 – in OAT 324 Ocular cystinosis 628 ferase 506 Parenteral feeding in metabolic – in organic acidurias 290 Oculocutaneous tyrosinaemia Orotic 98, 296 emergencies 112 – in PKU 253 270 505 Parkinsonian syndrome – in tyrosinaemia 268 Oculogyric crises 51 Orotidine decarboxylase 506 7 Extrapyramidal signs – in urea cycle disorders 303 Odd-numbered long-chain fatty Orotidine monophosphate Parkinsonism Next generation sequencing acids 282 506 – in adults 77, 78 104 Oedema 26 614 Paroxysmal dyskinesia N-glycanase 1 deficiency 621 O-fucose-specific β-1,3- Osteopenia 68 – in adults 77 N-glycans 609 glucosyltransferase 615 Ovarian failure Paroxysmal dystonia Nicotinamide adenine dinucleo- – deficiency 616 – in mitochondrial defects – in adults 77, 78 tide 188 O-fucose-specific β-1,3-N-acetyl 239 Patatin domain containing Nicotinamide (medication) 639 glucosaminyltransferase Overgrowth disorders 66 protein-9 486 Nicotinic acid deficiency 369 615 Oxalic 96 Pearson marrow- Nicotinic acid (medication) O-fucosylglycans 609 Oxidative syndrome 228, 229 639 – synthesis defects 615 (OXPHOS) pathway 224 Pedalling movements 8 655 N–P Subject Index

Pelger-Huet anomaly 462 Phosphatidylserine synthase 1 Pipecolic acid oxidase 334 Propionyl-CoA carboxylase Penicillamine (PSS1) 483 Pipecolic acid pathway 334 278, 376 – in Wilson 534 Phosphatidylserine synthases PNPLA8 mutations 485 Propionylglycine 98, 282, 379 Penicillamine (medication) 639 482 POLG mutations 231 Proprotein convertase subtilisin- Pentacarboxylic porphyrinogens 3‘-phosphoadenosine-5‘-phos- Polyarteritis nodosa 501 like kexin type 9 443 522 phosulfate (PAPS) 552 Polycystic kidneys 66 Prosaposin deficiency 566 Pentitol 157 Phosphocholine cytidylyltrans- Polycythemia 62 Protein and Allopurinol loading Pentose phosphate pathway ferase 482 Polyglucosan bodies 133 test 103 disorders 149 Phosphocholine (PC) 482 Polymyoclonus 42 Protein losing enteropathy 60 Pericardial effusions 14 Phosphodiesterase deficiency Polyneuropathy 37, 45, 52 Protein N-glycosylation disorders Perilipin 1 deficiency 481 (PDE10A) 42 Polyol 156 610 Perilipins 478 Phosphoenolpyruvate car- Polyphosphoinositide meta- Protein O- 1 Periodic fever syndromes 480 boxykinase 188 bolism 488 615 Peripheral neuropathies 37, 45, – deficiency 192 Pompe disease 131 Protein O-glucosyltransferase 1 52 deficiency Pontocerebellar hypoplasia type 615 – in adults 77 – in muscle 151 6 228 Protein O-glycosylation – in mitochondrial defects Phosphoglucomutase 1 619 Porphobilinogen 517 disorders, classification 239 – deficiency 620 – deaminase 518 615 Periportal hepatocytes 297 Phosphoglucomutase 3 618 Porphyria cutanea tarda 518, Protein O-mannose β-1,2-N- Peritoneal dialysis 113 3-phosphoglycerate dehydro- 522 acetylglucosaminyltrans- Perrault syndrome 228 genase deficiency 359 Porphyrias 516 ferase 1 615 Perseitol 157 (PGK) – classification 517, 518 Protein O-mannosyltransferase 1 Petechiae 58 deficiency 153 Porphyrinogens 517 615 PHARC syndrome 485 Portosystemic venous shunting Protein X 191 Phenolic acids 98, 271 (PGAM) deficiency 154 and hypergalactosemia – deficiency 192 Phenylacetic acid 98, 253 3-phosphoglyceric acid 153 146 578 Phenylalanine 94 Phosphoglycerolphosphate Postaxial acrofacial dysostosis Proton-dependent amino Phenylalanine ammonia lyase 483 507 acid transporter (SLC36A1) 256 Phosphoinositide kinase 488 Posterior fossa anomalies 50 370 Phenylalanine hydroxylase Phosphoinositide metabolism Postmortem protocol 105 Protoporphyrin 517 deficiency 253 and remodelling disorders Post prandial ketosis 28 Protoporphyrinogen oxidase Phenylalanine hydroxylation 488 PPCA, protective protein/ 518 system 252 A2 deficiency Cathepsin A 587 PRPP amidotransferase 497 Phenylalanine metabolism 252 (PLA2G6) 486 P-protein 350 PRPP synthetase 496 Phenylbutyrate 301 Phospholipase A2γ deficiency Prader-Willi-like syndrome Pseudo-Hurler 586 Phenylketones 253 485 365 Pseudoscleroderma 522 Phenyllactic 98, 253 488 Prader-Willi syndrome 10 Pseudotriglyceridemia 155 Phenylpyruvic acid 98, 253 biosynthesis and Pramipexole 261 Pseudotumor cerebri 88 Phosphatidic acid (PA) 478 remodelling pathway 482 Pramipexole (medication) 639 Psychiatric disorders Phosphatidic acid phosphatases Phosphomannomutase 2 610 Primapterinuria 259 – in adults 82 478, 479 – deficiency 611 Primary hyperlactataemia Psychiatric symptoms 22, 32 Phosphatidylcholine (P-Cho) Phosphomannose isomerase – emergency treatment 115 Psychosine 553, 563 482 deficiency 612 Progeroid features 328 Psychotic attacks Phosphatidylethanolamine Phosphoribosyl pyrophosphate Progeroid variant of Ehlers- – in adults 83 482 (PRPP) 496, 506 Danlos syndrome (B4GALT7- Pterin-4a-carbinolamine Phosphatidylethanolamine Phosphoribosyl pyrophosphate CDG) 614 dehydratase 252 N-methyltransferase 482 synthetase Progranulin 569 Pterin analysis Phosphatidylglycerol 483 – deficiency 497 Progressive external ophthal- – in PKU 259 Phosphatidylinositol – superactivity 497 moplegia (PEO) 228, 231 Pterins 252 – acylase 617 Phosphorylase kinase 124 – in adults 87 Pteroylglutamic acid 393 – deacylase 617 Phosphorylcholine 552 Progressive myoclonic epilepsy Ptosis 51 – glycerol acylase 617 aminotrans- 38 Pulmonary disease – glycerol deacylase 617 ferase deficiency 360 – in adults 82 – in mitochondrial defects Phosphatidylinositol 3-kinase 3-phosphoserine phosphatase Prolidase deficiency 329 239 488 deficiency 360 Proline 94 Pulmonary fibrosis 367 Phosphatidylinositol 4,5-bis- Phosphosphingolipids 552 Proline disorders 321 68 phosphate-5-phosphatase Photophobia 625 Proline metabolism 322 Punctate epiphyseal calcifica- 488 Photosensitivity 57 Proline oxidase 322 tions 68 Phosphatidylinositol 4-phos- PIGA deficiency 616 – deficiency 328 Purine bases 496 phate 5-kinase 488 PIGT transamidase subunit 617 Prolinuria 370 Purine catabolism 497 Phosphatidylserine (P-Ser) Pili torti 55 Propionic aciduria 279 496 482 Pipecolic acid 94, 408 Propionylcarnitine 282, 379 – disorders 497 656 Subject Index

Purine nucleoside phosphory- 156 Seipin 478 lase 496 phosphatase deficiency Ribose-5-phosphate 156 Seizures 7 Epilepsy – deficiency 501 192 Ribose-5-phosphate isomerase Selegiline 261 Purine nucleosides 496 Pyruvate metabolism disorders deficiency 156 Selegiline (medication) 640 Purine nucleotide cycle 187 Ribosomal (rRNAs) 231 Selenium metabolism 544 499 Pyruvate transporter defect – defects classification 237 Selenocysteine 544 – synthesis 497 197 Ribulose-5-phosphate 156 Selenocysteine insertion Purine salvage 497 Pyruvoyl-tetrahydrobiopterin Richner-Hanhart syndrome sequence (SECIS) 544 Purpuras 58 synthase 252 270 Self mutilation 52 Pycnodysostosis 586 Rickets 26 SENDA syndrome 5 Pyramidal hypertonia 35 – in tyrosinaemia 267 Sengers syndrome 228, 484 Pyranopterin monophosphate Ring sideroblasts 517 Sepiapterine reductase 252 317 Q (RYR1) 24 – deficiency 425 Pyridoxal 406 Quinones 224 SepSecS 544 Pyridoxal-phosphate (medica- SERAC1 483 tion) 639 SERAC1 mutation 485 Pyridoxamine 406 S Serine 94 Pyridox(am)ine 5’-phosphate R Saccharopine 338 Serine disorders 357 oxidase (PNPO) Rabenosyn-5 5 Saccharopinuria 337 Serine metabolism 358 – deficiency 410 Ravicti 301 SAC domain-containing inositol Serine palmitoyltransferase Pyridoxine dependent epilepsy R binder 387 phosphatase 488 553 408 – deficiency 388 S-adenosylhomocysteine – deficiency 361, 553 Pyridoxine (medication) 639 Recurrent acute infantile liver hydrolase deficiency 313 Serine transporter deficiency Pyridoxine metabolism 401 failure 13 S-adenosylhomocysteine (SAH) 360 Pyridoxine non-responsive Recurrent fever 64 310 Serotonin 422 homocystinuria 315 Recurrent hypoglycemia with – for the methylation of gua- Severe combined immune Pyridoxine-responsive anaemia hepatomegaly 16 nidinoacetate 246 deficiency (SCID) 64, 499 411 Recurrent myoglobinuria 22 S-adenosylmethionine (SAM) Sexual ambiguity 59 Pyridoxine-responsive homo- Reduced FAD 202 310 SGLT1 deficiency 177 cystinuria 316 Regression (mental) 40 586 SGLT2 deficiency 178 (cytosolic) 5’-nucleo- Rehydration in metabolic Salt and pepper syndrome 58, Short-/branched-chain acyl-CoA tidase 506 encephalopathy 111 555, 617 dehydrogenase 278 – deficiency 508 Remethylation pathway 310 Salt-losing syndrome 59 Short-chain enoyl-CoA hydra- Pyrimidine metabolism Renal disease Sandhoff disease 561 tase 1 334 – disorders 505 – in mitochondrial defects SANDO syndrome 228, 231 Short-chain L-3-hydroxyacyl- – pathways 506 239 (MPS III) CoA dehydrogenase 170 Pyrimidine nucleosides 506 Renal failure 625 582 Shy-Drager syndrome 423 Pyrimidine salvage 505 Renal glucosuria (SGLT2 defi- Santavuori-Haltia 568 Sialic acid 552, 557 – synthesis 505 ciency) 178 SAPHO syndrome 480 Sialic acid residues 611 Pyroglutamic 98 Renal transplantation Saposin 557 586 Pyroglutamic aciduria 434 – in cystinosis 625 Sapropterin dihydrochloride 587 Δ1-pyrroline 5-carboxylate – in MMA 287 255 Sialuria (French type) 586 322 Respiratory alkalosis 68 Scheie syndrome (MPS IS) Sideroblastic anaemia 517 Δ1-pyrroline-5-carboxylate – in hyperammonemia 30 582 Signal sequence receptor 4 of dehydrogenase 322 Respiratory chain 224 Schilling test 387 TRAP complex 610 – deficiency 329 Retinal dystrophies 46 586 Sitosterolaemia 443, 451 Δ1-pyrroline-5-carboxylate Retinitis pigmentosa 51 Schizophrenia Skin laxity 58 reductase 322 Reversible infantile respiratory – in adults 83 Skin rashes 57 – deficiency 328 chain deficiency 228, 229 Schneckenbecken dysplasia Skin ulcers 58 Δ1-pyrroline-5-carboxylate Reye syndrome 20, 22 488, 615 SLC11A2 537 synthetase 296, 322 RFVT1 deficiency 212 SCOT 216 SLC30/39 family zinc transport- – deficiency 305, 327 RFVT2 riboflavin transporters – deficiency 218 ers 544 Pyruvate 98 211 Sea-blue histiocytes 568 SLC40A1 537 188, 300, RFVT3 riboflavin transporters Sebacic 95, 98 (MPS VII) 582 376 211 Sebelipase alfa (medication) Small peptide disorders – deficiency 189 Rhabdomyolysis 24 640 413 Pyruvate dehydrogenase – in adults 87 SECIS-binding protein 2 544 Smith-Lemli-Opitz syndrome complex 188 Ribitol 156 Sedoheptitol 157 458 – deficiency 192 Riboflavin (medication) 640 (SHPK) SNARE protein 5 Pyruvate dehydrogenase kinase Riboflavin metabolism 201, deficiency 158 Snyder Robinson syndrome isoenzyme 3 deficiency 203 Sedoheptulose 159 330 192 – defects 211 Sedoheptulosuria 626 Sodium benzoate 300 657 P–T Subject Index

Sodium benzoate (medication) Stomatitis 69 phosphorylase 506 640 Storage signs 17 T – deficiency 508 Sodium-dependent glucose Strabismus 51 TANGO2 mutations 24 Thymidylate (dTMP) 393 transporters (SGLTs) 176 Stridor 68 Tarui Disease 151 98 Sodium phenylacetate 300 (and stroke like) 18 Taurine 95, 311 Tiglylcarnitine 379 Sodium phenylbutyrate – in adults 77 Taurine-conjugated 3β-hydroxy- Tiglylglycine 98, 282, 379 (medication) 640 Subacute degeneration of the 5-cholenoic 472 Tiopronin (medication) 638 Sodium pyruvate (medication) spinal cord 84 Tay-Sachs disease 561 TMEM199 deficiency 620 640 Subdural hematomas 45 TAZ () 483 T-protein 350 Somatostatin Suberic 98 58 Transaldolase (TALDO) deficiency – in hyperinsulinism 174 Suberylglycine 98 Tentamy preaxial brachydactyly 157 Sotos syndrome 171 reduction therapy syndrome 615 Transaminases 7 Elevated trans- Spasticity 36 – in Gaucher 558 Tetracarboxylic porphyrin 517 aminases Spastic paraparesis Succinate 95 Tetracarboxyl porphyrinogen Transcinnamic acid 256 – in adults 84 Succinate dehydrogenase 188, 522 Transcobalamin receptor Spastic paraplegia/paraparesis 224 Tetradecanedioic 98 – deficiency 389 37 – deficiency 196 Tetrahydrobiopterin (BH4) 252 Transcobalamin (TC) 386 Spectrophotometric assays Succinate-hydroxymethylgluta- Tetrahydrobiopterin (medica- – deficiency 388 – in OXPHOS 236 rate CoA-transferase 334 tion) 640 Transepithelial transport of Spermine synthase deficiency – deficiency 342 Tetrahydrofolate (THF) 393 amino acids 364 330 Succinate-ubiquinone oxido- Tetrathiomolybdate (medica- Transferrin 537 552 reductase 224 tion) 640 Transferrin receptor 1 deficiency – biosynthesis 553 Succinic semialdehyde dehydro- TFR2-related hereditary hemo- 538 – degradation pathway 557 genase 416 chromatosis (type 3) 539 Transferrin receptor 2 537 – structure and metabolism – deficiency 418 Thiamine Transfer RNAs (tRNAs) 231 552 Succinylacetoacetate 266 – in PDH deficiency 194 – defects classification 237 – synthesis disorders 553 Succinylacetone 98, 266 Thiamine (medication) 641 Transient hyperammonaemia of Sphingolipidoses 556 Succinyladenosine 496 Thiamine metabolism 401 the newborn 300 552 Succinylaminoimidazolecarbox- – disorders 403 Transient NKH 354 Sphingosine-1-phosphate 552 amide ribotide 496 Thiamine pyrophosphate (TPP) Transient receptor potential Spielmeyer-Vogt disease 570 Succinylation 337 402 channel (TRPM) 541 Spinocerebellar ataxia, in adults Succinylcarnitine 283 Thiamine pyrophosphate trans- Transketolase 402, 403 85 Succinyl-CoA 3-oxoacid CoA porter Transketolase (TKT) deficiency Spinocerebellar ataxia with transferase 216 – deficiency 405 158 epilepsy 228 Succinyl-CoA synthase 283 Thiamine pyrophosphokinase Transmembrane protein 165 Spondylocostal dysostosis type SUCLA2 283 402 619 3 615 SUCLG2 283 – deficiency 404 Transmembrane protein 199 Squalene epoxidase 457 -isomaltase deficiency Thiamine-responsive maple 619 Squalene synthase 457 165 syrup urine disease 406 Transsulfuration pathway 310 Static encephalopathy of child- Sudden unexpected death in Thiamine-responsive pyruvate Tricarboxylic Acid Cycle disorders hood with neurodegeneration infancy 22 dehydrogenase deficiency 187 in adulthood (SENDA) 541 Sulfatase modifying factor 1 405 Trichorrhesis nodosa 55 Statins (medication) 640 (SUMF1) 583 Thiamine-responsive α-ketoacid Trientine 534 Steatosis 13, 63 Sulfate 310 dehydrogenase deficiencies Triethylene tetramine (medica- Steroid 5 α-reductase 3 618 553, 564 405 tion) 641 – deficiency (SRD5A3-CDG) Sulfite 311 Thiamine transporter 1 (THTR1) Triglyceride lipase (ATGL or 617 Sulfite oxidase (SUOX) 311 402 PNPLA2) deficiency 481 Sterol 4α-carboxylate 3-dehydro- – deficiency 318 – deficiency 403 Triglyceride synthesis pathway genase deficiency 460 Sulfitest 15 (THTR2) 478 Sterol Δ5-desaturase 457 Sulfocysteine 94, 408 402 Triheptanoin – deficiency (Lathosterolosis) Sulfur Amino Acid Concentra- – deficiency 404 – in PC 190 461 tions in plasma 312 Thiopurine S-methyltransferase Triheptanoin (medication) Sterol Δ7-reductase 457 Sulfur amino acid disorders 309 497 641 Sterol Δ8-Δ7 isomerase 457 Sulfur amino acid metabolism – deficiency 505 Trihydroxy-cholanoic acid 472 – deficiency 459 310 Thiosulfate 311 Trimethylamine 430 Sterol Δ14-reductase 457 Sulfur dioxygenase (ETHE1) Threonine 95 Trimethylamine metabolism – deficiency 462 311 Thrombocytopenia 62 430 Sterol Δ24-reductase 457 Sulphated Δ5 bile acids 467 Thymidine 506 Trimethylaminuria 431 Sterol 27-hydroxylase 466 Sulphated dihydroxycholanoic 506 162 – deficiency 469 acid 472 – deficiency 509 Triosephosphate isomerase (TPI) Sterol C-14 demethylase Supranuclear paralysis 51 Thymidine monophosphate deficiency 152 complex 457 Sweet syndrome 480 506 Tripeptidyl peptidase 1 569 658 Subject Index

tRNA to incorporate selenocyste- Ureidoisobutyrate 508 Vitamin therapy in metabolic ine 544 Ureidopropionase 506 emergencies 113 TRPM6 deficiency 541 – deficiency 508 Voltage-sensitive Ca2+ channel Tryptophan catabolism 334 Ureidopropionate 508 170 Tryptophan hydroxylase 252 Uric acid 496 Tubular acidosis 27 Uridine 506 Tubulopathy 66 Uridine diphosphate-galactose 4-tyramine 271 4-epimerase 140 W Tyrosinaemia – deficiency 144 White matter hyperintensity 49 – transient 272 Uridine diphosphogalactose Wilson disease 533 Tyrosinaemia type I 267 140 Wolf Parkinson White 24 Tyrosinaemia type II 270 Uridine diphosphoglucose 140 Wolfram syndrome 228 Tyrosinaemia Type III 271 506 Wolman disease 445, 450 Tyrosine 95 Uridine (medication) 641 Woodhouse-Sakati syndrome Tyrosine aminotransferase 266 Uridine monophosphate 506 541 – deficiency 270 Uridine monophosphate hydro- Wormian bones 586 Tyrosine hydroxylase 252 lase 508 Wrinkly skin syndrome 619 – deficiency 421 Urine color 66 Tyrosine metabolism disorders Urine odors 14, 66 265 Uronic acid 578 Uroporphyrin 517 X Uroporphyrin I 522 Xanthine 502 Uroporphyrinogen 522 (dehydroge- U – decarboxylase 518 nase) 496 Ubiquinol-cytochrome c oxidore- – III cosynthase 518 – deficiency 501 ductase 224 – I synthase 520 501 Ubiquinone 224 Xanthosine monophosphate Ubiquinone (medication) 641 496 UDP-galactose transporter Xanthurenic acid 407 618 V X-linked distal hereditary motor UDP-GlcNAc\ Vacuolated 62 neuropathy 535 – Dol-P-GlcNAc-P transferase Vacuolizing leukoencephalo- X-Linked dominant chondrodys- 610 pathy 48 plasia punctata 2 459 – deficiency 613 Valine 93, 278 X-linked protoporphyria 518, – phosphatidylinositol N-acetyl- Vanillacetate 407 524 glucosaminyltransferase sub- Vanillactic 98 X-linked sideroblastic anaemia unit 617 Vanilpyruvic 98 411, 517, 518 UDP-GlcNAc 2-epimerase 587 Variegate porphyria 518, 523 (1,2) 615 UDP-GlcNAc 2-epimerase/ Very-long-chain acyl-CoA Xylulose 156 Man-NAc kinase 618 dehydrogenase (VLCAD) Xylulose-5-phosphate 157 UDP-GlcNAc transporter 618 deficiency 205 UDP glucose pyrophosphorylase Very low-density lipoprotein 140 (VLDL) 442 UDP-N-acetylglucosamine 140 Vesicular-mediated trafficking 5 Y UDP-N-acetylglucosamine-1- Vesiculous bullous lesions 57 Yunis-Varon syndrome 488 587 Vici syndrome 67 UDP-N-acetyl-α-D-galactos- Vigabatrin (medication) 641 amine\ Visual hallucinations – polypeptide N-acetylgalactos- – in adults 83 Z aminyltransferase 3 615 Visual problems Zinc deficiency Ultra-long chain fatty acid – in adults 87 – in breastfed babies 546 ω-hydroxylase (CYP4F22) Vitamin and cofactor cocktails Zinc metabolism 544 deficiencies 555 240 Zinc sulfate (medication) 641 UMP synthase deficiency 505 Vitamin B1 metabolism 402 – in Wilson 534 Uncooked cornstarch Vitamin B6 metabolism 407 – in GDS III 128 – disorders 407 – in GSD I 125 Vitamin B12 (medication) 637 – in GSD VI 129 Vitamin C (medication) 641 – in GSD IX 129 Vitamin E (medication) 641 98 Vitamin-responsive disorders Urea cycle disorders 295 373