Atlas of Metabolic Diseases, 2nd Edition

Book title......Page 4
Contents......Page 6
Contributors......Page 10
Preface......Page 12
Part 1 Organic acidemias......Page 14
1 Introduction......Page 16
2 Propionic acidemia......Page 21
3 Methylmalonic acidemia......Page 31
4 Methylmalonic aciduria and homocystinuria (cobalamin C and D disease)......Page 43
5 Multiple carboxylase deficiency/holocarboxylase synthetase deficiency......Page 49
6 Multiple carboxylase deficiency/biotinidase deficiency......Page 55
7 Isovaleric acidemia......Page 64
8 Glutaric aciduria (type I)......Page 70
9 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria......Page 79
10 3-Methylglutaconic aciduria......Page 83
11 3-Hydroxyisobutyric aciduria......Page 91
12 Malonic aciduria......Page 96
13 D-2-Hydroxyglutaric aciduria......Page 100
14 L-2-Hydroxyglutaric aciduria......Page 104
15 2-Oxoadipic aciduria......Page 107
16 4-Hydroxybutyric aciduria......Page 110
17 Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency......Page 115
Part 2 Disorders of amino acid metabolism......Page 122
18 Albinism......Page 124
19 Alkaptonuria......Page 134
20 Phenylketonuria......Page 140
21 Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin......Page 149
22 Homocystinuria......Page 159
23 Homocystinuria due to n(5,10)-methylenetetrahydrofolate reductase......Page 166
24 Maple syrup urine disease (branched-chain oxoaciduria)......Page 172
25 Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency......Page 181
26 Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency......Page 188
27 Nonketotic hyperglycinemia......Page 196
Part 3 Hyperammonemia and disorders of the urea cycle......Page 204
28 Introduction to hyperammonemia and disorders of the urea cycle......Page 206
29 Ornithine transcarbamylase deficiency......Page 212
30 Carbamyl phosphate synthetase deficiency......Page 219
31 Citrullinemia......Page 223
32 Argininosuccinic aciduria......Page 229
33 Argininemia......Page 235
34 Hyperornithinemia, Hyperammonemia, Homocitrullinuria (HHH) syndrome......Page 241
35 Lysinuric protein intolerance......Page 246
Part 4 Disorders of fatty acid oxidation......Page 252
36 Introduction to disorders of fatty acid oxidation......Page 254
37 Carnitine transporter deficiency......Page 259
38 Carnitine translocase deficiency......Page 265
39 Carnitine palmitoyl transferase I deficiency......Page 269
40 Medium chain acyl CoA dehydrogenase deficiency......Page 273
41 Very long-chain acyl CoA dehydrogenase (VLCAD) deficiency......Page 280
42 Long chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency – trifunctional protein deficiency......Page 285
43 Short-chain acyl CoA dehydrogenase (SCAD) deficiency......Page 291
44 Short-chain 3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency......Page 295
45 Multiple acyl CoA dehydrogenase deficiency (MADD)/Glutaric aciduria, type II/Ethylmalonic-adipic aciduria......Page 297
46 3-Hydroxy-3-methylglutaryl CoA lyase deficiency......Page 305
Part 5 The lactic acidemias and mitochondrial disease......Page 314
47 Introduction to the lactic acidemias......Page 316
48 Pyruvate carboxylase deficiency......Page 325
49 Fructose-1,6-diphosphatase deficiency......Page 331
50 Deficiency of the pyruvate dehydrogenase complex (PDHC)......Page 336
51 Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases......Page 344
52 Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes (MELAS)......Page 349
53 Myoclonic epilepsy and ragged red fiber (MERRF) disease......Page 356
54 Neurodegeneration, ataxia and retinitis pigmentosa (NARP)......Page 361
55 Kearns-Sayre syndrome......Page 366
56 Pearson syndrome......Page 371
57 The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency......Page 376
Part 6 Disorders of carbohydrate metabolism......Page 384
58 Galactosemia......Page 386
59 Glycogen storage disease: introduction......Page 395
60 Glycogenosis type I – Von Gierke disease......Page 398
61 Glycogenosis type II/Pomple/lysosomal α-glucosidase deficiency......Page 407
62 Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency......Page 415
Part 7 Peroxisomal disorders......Page 422
63 Adrenoleukodystrophy......Page 424
64 Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis......Page 432
Part 8 Disorders of purine metabolism......Page 442
65 Lesch-Nyhan disease and the non-Lesch-Nyhan variants of HPRT......Page 444
66 Adenine phosphoribosyl-transferase (APRT) deficiency......Page 457
67 Phosphoribosylpyrophosphate (PRPP) synthetase and its abnormalities......Page 461
68 Adenosine deaminase deficiency......Page 465
69 Adenylosuccinate lyase deficiency......Page 471
Part 9 Disorders of transport and mineral metabolism......Page 476
70 Cystinuria......Page 478
71 Cystinosis......Page 485
72 Hartnup disease......Page 492
73 Histidinuria......Page 495
74 Menkes disease......Page 497
75 Wilson disease......Page 504
Part 10 Mucopolysaccharidoses......Page 512
76 Introduction to mucopolysaccharidoses......Page 514
77 Hurler disease/mucopolysaccharidosis type IH (MPSIH)/α-L-iduronidase deficiency......Page 517
78 Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency......Page 525
79 Hunter disease/mucopolysaccharidosis type II (MPS II)/iduronate sulfatase deficiency......Page 530
80 Sanfilippo disease/mucopolysaccharidosis type III (MPS III)......Page 537
81 Morquio syndrome/mucopolysaccharidosis type IV (MPS IV)/keratan sulfaturia......Page 545
82 Maroteaux-Lamy disease/mucopolysaccharidosis VI (MPS VI)/N-acetylgalactosamine-4-sulfatase deficiency......Page 552
83 Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII (MPS VII)......Page 559
Part 11 Mucolipidoses......Page 564
84 I-cell disease/mucolipidosis II......Page 566
85 Mucolipidosis III/psuedo-Hurler polydystrophy/N-acetyl-glucosaminyl-l-phosphotransferase deficiency......Page 573
Part 12 Disorders of cholesterol and neutral lipid metabolism......Page 580
86 Familial hypercholesterolemia......Page 582
87 Mevalonic aciduria......Page 590
88 Lipoprotein lipase deficiency/type I hyperlipoproteinemia......Page 595
Part 13 Lipid storage disorders......Page 604
89 Fabry disease......Page 606
90 GM[sub(1)] gangliosidosis/β-galactosidase deficiency......Page 612
91 Tay-Sachs disease/hexosaminidase A deficiency......Page 622
92 Sandhoff disease/GM[sub(2)] gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency......Page 629
93 GM[sub(2)] activator deficiency/GM[sub(2)] gangliosidosis – deficiency of the activator protein......Page 636
94 Gaucher disease......Page 639
95 Niemann-Pick disease......Page 648
96 Niemann-Pick type C disease/cholesterol-processing abnormality......Page 657
97 Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy......Page 664
98 Wolman disease/cholesteryl ester storage disease......Page 670
99 Fucosidosis......Page 677
100 α-Mannosidosis......Page 681
101 Galactosialidosis......Page 687
102 Metachromatic leukodystrophy......Page 694
103 Multiple sulfatase deficiency......Page 701
Part 14 Miscellaneous......Page 710
104 Congenital disorder of glycosylation, type Ia......Page 712
105 Other forms of congenital disorders of glycosylation......Page 718
106 α[sub(1)]-Antitrypsin deficiency......Page 731
107 Canavan disease/aspartoacylase deficiency......Page 738
108 Glutamyl-ribose-5-phosphate storage disease/ADP-ribosyl-protein lyase deficiency......Page 744
109 Ethylmalonic encephalopathy......Page 747
110 Disorders of creatine metabolism......Page 754
111 Sanjad-Sakati syndrome......Page 758
112 Al Aqeel-Sewairi syndrome – multicentric osteolysis, nodulosis, arthropathy (MONA) – MMP-2 deficiency......Page 761
Appendix......Page 772
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