9781444112252

Table of Contents


	Contributor	ix
	Foreword	xi
	Preface	xii
PART 1	ORGANIC ACIDEMIAS
1	Introduction	3
2	Propionic acidemia	8
3	Methylmalonic acidemia	19
4	Methylmalonic aciduria and homocystinuria (cobalamin C and D disease)	33
5	Multiple carboxylase deficiency/holocarboxylase synthetase deficiency	40
6	Multiple carboxylase deficiency/biotinidase deficiency	47
7	Isovaleric acidemia	57
8	Glutaric aciduria (type I)	64
9	3-Methylcrotonyi CoA carboxylase deficieney/3-methylcrotonyi glycinuria	74
10	D-2-Hydroxyglutaric aciduria	79
11	L-2-Hydroxyglutaric aciduria	85
12	4-Hydroxybutyric aciduria	89
13	Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency	95
PART 2	DISORDERS OF AMINO ACID METABOLISM
14	Alkaptonuria	105
15	Phenylketonuria	112
16	Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin	123
17	Biogenic amines	136
18	Homocystinuria	144
19	Maple syrup urine disease (branched-chain oxoaciduria)	152
20	Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency	164
21	Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency	171
22	Nonketotic hyperglycinemia	180
PART 3	HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE
23	Introduction to hyperammonemia and disorders of the urea cycle	191
24	Ornithine transcarbamylase deficiency	197
25	Carbamylphosphate synthetase deficiency	205
26	Citrullinemia	210
27	Argininosuccinic aciduria	216
28	Argininemia	223
29	Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome	229
30	Lysinuric protein intolerance	235
31	Glutamine synthetase deficiency	241
PART 4	DISORDERS OF FATTY ACID OXIDATION
32	Introduction to disorders of fatty acid oxidation	247
33	Carnitine transporter deficiency	253
34	Carnitine-acylcarnitine translocase deficiency	260
35	Carnitine palmitoyl transferase I deficiency	267
36	Carnitine palmitoyl transferase II deficiency, lethal neonatal	273
37	Carnitine palmitoyl transferase II deficiency, late onset	277
38	Medium chain acyl CoA dehydrogenase deficiency	281
39	Very long chain acyl CoA dehydrogenase deficiency	289
40	Long chain L-3-hydroxyacyl CoA dehydrogenase - (trifunctional protein deficiency)	295
41	Short-chain acyl CoA dehydrogenase deficiency	302
42	3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency	309
43	Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydroge�nase) deficiency	312
44	Multiple acyl CoA dehydrogenase deficiency/glutaric aciduria type II/ethylmalonic-adipic aciduria	316
45	3-Hydroxy-3-methylglutarylCoA lyase deficiency	325
PART 5	THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE
46	Introduction to the lactic acidemias	337
47	Pyruvate carboxylase deficiency	347
48	Fructose-1,6-diphosphatase deficiency	354
49	Deficiency of the pyruvate dehydrogenase complex	359
50	Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate, and branched chain oxoacid dehydrogenases	368
51	Mitochondrial encephalomyelopathy, lactic acidosis, and stroke-like episodes (MELAS)	374
52	Myoclonic epilepsy and ragged red fiber (MERRF) disease	382
53	Neurodegeneration, ataxia, and retinitis pigmentosa (NARP)	388
54	Kearns-Sayre syndrome	393
55	Pearson syndrome	398
56	The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency	404
PART 6	DISORDERS OF CARBOHYDRATE METABOLISM
57	Galactosemia	415
58	Glycogen storage diseases: introduction	425
59	Glycogenosis type I -Von Gierke disease	428
60	Glycogenosis type II/Pompe/lysosomal α-glucosidase deficiency	438
61	Glycogenosis type III/amylo-1,6-glucosidase (debrancher) deficiency	447
PART 7	PEROXISOMAL DISORDERS
62	Adrenoleukodystrophy	459
63	Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis	469
PART 8	DISORDERS OF PURINE METABOLISM
64	Lesch-Nyhan disease and variants	483
65	Adenine phosphoribosyl-transferase deficiency	498
66	Phosphoribosylpyrophosphate synthetase and its abnormalities	503
67	Adenosine deaminase deficiency	507
68	Adenylosuccinate lyase deficiency	514
69	Orotic aciduria	518
PART 9	�DISORDERS OF TRANSPORT AND MINERAL METABOLISM
70	Cystinuria	525
71	Cystinosis	532
72	Hartnup disease	540
73	Histidinuria	544
74	Menkes disease	546
PART 10	MUC0PQLYSACCHARID0SES
75	Introduction to mucopolysaccharidoses	555
76	Hurler disease/mucopolysaccharidosis type lHα-L-iduronidase deficiency	558
77	Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and IHS/α-iduronidase deficiency	566
78	Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency	572
79	Sanfilippo disease/mucopolysaccharidosis type III	580
80	Morqulosyndrome/mucopolysaccharidosistype IV/keratan sulfaturia	588
81	Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency	597
82	Sly disease/β-glucuronidase deficiency/mucopolysaccharidosis VII	605
PART 11	MUCOUPIOOSES
83	l-cell disease/mucolipidosis II	613
84	Mucolipidosis III/pseudo-Hurler polydystrophy/N-acetyl-glucosaminyl-I-phosphotransferase deficiency	621
PART 12	DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM
85	Familial hypercholesterolemia	631
86	Mevalonic aciduria	642
87	Lipoprotein lipase deficiency/type I hyperlipoproteinemia	648
PART 13	LIPID STORAGE DISORDERS
88	Fabry disease	659
89	GM₁ gangliosidosis/β-galactosidase deficiency	666
90	Tay-Sachsdisease/hexosaminidase A deficiency	678
91	Sandhoff disease/GM₂ gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency	686
92	GM₂ activator deficiency/GM₂ gangliosidosis - deficiency of the activator protein	694
93	Gaucher disease	698
94	Niemaniv-Pick disease	708
95	Niemann-Pick type C disease/cholesterol-processing abnormality	718
96	Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy	726
97	Wolman disease/cholesteryl ester storage disease	733
98	Fucosidosis	740
99	α-Mannosidosis	745
100	Galactosialidosis	752
101	Metachromatic leukodystrophy	760
102	Multiple sulfatase deficiency	769
PART 14	MISCELLANEOUS
103	Congenital disorder of glycosylation, type la	781
104	Other forms of congenital disorders of glycosylation	787
105	α,-Antitrypsin deficiency	803
106	Canavan disease/aspartoacylase deficiency	811
107	Ethylmalonic encephalopathy	819
108	Disorders of creatine synthesis of transport	827
	Appendix	833
	Index	847