Atlas of metabolic diseases

Part 1 Organic acidemias 1 1 Introduction 3 2 Propionic acidemia 8 3 Methylmalonic acidemia 18 4 Methylmalonic aciduria and homocystinuria (cobalamin C and D disease) 30 5 Multiple carboxylase deficiency/holocarboxylase synthetase deficiency 36 6 Multiple carboxylase deficiency/biotinidase deficiency 42 7 Isovaleric acidemia 51 8 Glutaric aciduria (type I) 57 9 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria 66 10 3-Methylglutaconic aciduria 70 11 3-Hydroxyisobutyric aciduria 78 12 Malonic aciduria 83 13 D-2-Hydroxyglutaric aciduria 87 14 L-2-Hydroxyglutaric aciduria 91 15 2-Oxoadipic aciduria 94 16 4-Hydroxybutyric aciduria 97 17 Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency 102 Part 2 Disorders of amino acid metabolism 109 18 Albinism 111 19 Alkaptonuria 121 20 Phenylketonuria 127 21 Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin 136 22 Homocystinuria 146 23 Homocystinuria due to n(5,10)-methylenetetrahydrofolate reductase 153 24 Maple syrup urine disease (branched-chain oxoaciduria) 159 25 Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency 168 26 Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency 175 27 Nonketotic hyperglycinemia 183 Part 3 Hyperammonemia and disorders of the urea cycle 191 28 Introduction to hyperammonemia and disorders of the urea cycle 193 29 Ornithine transcarbamylase deficiency 199 30 Carbamyl phosphate synthetase deficiency 206 31 Citrullinemia 210 32 Argininosuccinic aciduria 216 33 Argininemia 222 34 Hyperornithinemia, Hyperammonemia, Homocitrullinuria (HHH) syndrome 228 35 Lysinuric protein intolerance 233Part 4 Disorders of fatty acid oxidation 239 36 Introduction to disorders of fatty acid oxidation 241 37 Carnitine transporter deficiency 246 38 Carnitine translocase deficiency 252 39 Carnitine palmitoyl transferase I deficiency 256 40 Medium chain acyl CoA dehydrogenase deficiency 260 41 Very long-chain acyl CoA dehydrogenase (VLCAD) deficiency 267 42 Long chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency – trifunctional protein deficiency 272 43 Short-chain acyl CoA dehydrogenase (SCAD) deficiency 278 44 Short-chain 3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency 282 45 Multiple acyl CoA dehydrogenase deficiency (MADD)/Glutaric aciduria, type II/Ethylmalonic-adipic aciduria 284 46 3-Hydroxy-3-methylglutaryl CoA lyase deficiency 292 Part 5 The lactic acidemias and mitochondrial disease 301 47 Introduction to the lactic acidemias 303 48 Pyruvate carboxylase deficiency 312 49 Fructose-1,6-diphosphatase deficiency 318 50 Deficiency of the pyruvate dehydrogenase complex (PDHC) 323 51 Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases 331 52 Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes (MELAS) 336 53 Myoclonic epilepsy and ragged red fiber (MERRF) disease 343 54 Neurodegeneration, ataxia and retinitis pigmentosa (NARP) 348 55 Kearns-Sayre syndrome 353 56 Pearson syndrome 358 57 The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency 363 Part 6 Disorders of carbohydrate metabolism 371 58 Galactosemia 373 59 Glycogen storage disease: introduction 382 60 Glycogenosis type I – Von Gierke disease 385 61 Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency 394 62 Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency 402 Part 7 Peroxisomal disorders 409 63 Adrenoleukodystrophy 411 64 Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis 419 Part 8 Disorders of purine metabolism 429 65 Lesch-Nyhan disease and the non-Lesch-Nyhan variants of HPRT 431 66 Adenine phosphoribosyl-transferase (APRT) deficiency 444 67 Phosphoribosylpyrophosphate (PRPP) synthetase and its abnormalities 448 68 Adenosine deaminase deficiency 452 69 Adenylosuccinate lyase deficiency 458 Part 9 Disorders of transport and mineral metabolism 463 70 Cystinuria 465 71 Cystinosis 472 72 Hartnup disease 479 73 Histidinuria 482 74 Menkes disease 484 75 Wilson disease 491 Part 10 Mucopolysaccharidoses 499 76 Introduction to mucopolysaccharidoses 501 77 Hurler disease/mucopolysaccharidosis type IH (MPSIH)/-L-iduronidase deficiency 504 78 Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/-iduronidase deficiency 512 79 Hunter disease/mucopolysaccharidosis type II (MPS II)/iduronate sulfatase deficiency 51780 Sanfilippo disease/mucopolysaccharidosis type III (MPS III) 524 81 Morquio syndrome/mucopolysaccharidosis type IV (MPS IV)/keratan sulfaturia 532 82 Maroteaux-Lamy disease/mucopolysaccharidosis VI (MPS VI)/N-acetylgalactosamine-4-sulfatase deficiency 539 83 Sly disease/-glucuronidase deficiency/mucopolysaccharidosis VII (MPS VII) 546 Part 11 Mucolipidoses 551 84 I-cell disease/mucolipidosis II 553 85 Mucolipidosis III/psuedo-Hurler polydystrophy/N-acetyl-glucosaminyl-l-phosphotransferase deficiency 560 Part 12 Disorders of cholesterol and neutral lipid metabolism 567 86 Familial hypercholesterolemia 569 87 Mevalonic aciduria 577 88 Lipoprotein lipase deficiency/type I hyperlipoproteinemia 582 Part 13 Lipid storage disorders 591 89 Fabry disease 593 90 GM1 gangliosidosis/-galactosidase deficiency 599 91 Tay-Sachs disease/hexosaminidase A deficiency 609 92 Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency 616 93 GM2 activator deficiency/GM2 gangliosidosis – deficiency of the activator protein 623 94 Gaucher disease 626 95 Niemann-Pick disease 635 96 Niemann-Pick type C disease/cholesterol-processing abnormality 644 97 Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy 651 98 Wolman disease/cholesteryl ester storage disease 657 99 Fucosidosis 664 100 -Mannosidosis 668 101 Galactosialidosis 674 102 Metachromatic leukodystrophy 681 103 Multiple sulfatase deficiency 688 Part 14 Miscellaneous 697 104 Congenital disorder of glycosylation, type Ia 699 105 Other forms of congenital disorders of glycosylation 705 106 1-Antitrypsin deficiency 718 107 Canavan disease/aspartoacylase deficiency 725 108 Glutamyl-ribose-5-phosphate storage disease/ADP-ribosyl-protein lyase deficiency 731 109 Ethylmalonic encephalopathy 734 110 Disorders of creatine metabolism 741 111 Sanjad-Sakati syndrome 745 112 Al Aqeel-Sewairi syndrome – multicentric osteolysis, nodulosis, arthropathy (MONA) – MMP-2 deficiency