Atlas of Inherited Metabolic Diseases 3rd Edition

 

Atlas of Inherited Metabolic Diseases 3rd Edition

The third edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases.
The Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring.

CONTENTS:

Part 1 Organic acidemias
1 Introduction
2 Propionic acidemia
3 Methylmalonic acidemia
4 Methylmalonic aciduria and homocystinuria (cobalamin C and C disease)
5 Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
6 Multiple carboxylase deficiency/biotinidase deficiency
7 Isovaleric acidemia
8 Glutaric aciduria (type I)
9 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria
10 D-2-hydroxyglutaric aciduria
11 L-2-hydroxyglutaric aciduria
12 4-hydroxybutyric aciduria
13 Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency
Part 2 Disorders of amino acid metabolism
14 Alkaptonuria
15 Phenylketonuria
16 Hyphenylalaninemia and defective metabolism of tetrahydrobiopterin
17 Biogenetic amines
18 Homocystinuria
19 Maple syrup urine disease (branched-chain oxoaciduria)
20 Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency
21 Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency
22 Nonketotic hyperglycinemia
Part 3 Hyperammonemia and disorders of the urea cycle
23 Introduction to hyperammonemia and disorders of the urea cycle
24 Ornithine transcarbamylase deficiency
25 Carbamyl phosphate synthetase deficiency
26 Citrullinemia
27 Argininosuccinic aciduria
28 Argininemia
29 Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
30 Lysinuric protein intolerance
31 Glutamine synthetase deficiency
Part 4 Disorders of fatty acid oxidation
32 Introduction to disorders of fatty acid oxidation
33 Carnitine transporter deficiency
34 Carnitine: acylcarnitine translocase deficiency
35 Carnitine palmitoyl transferase I deficiency
36 Carnitine palmitoyl transferase II deficiency, lethal neonatal
37 Carnitine palmitoyl transferase II deficiency, late onset
38 Medium chain acyl CoA dehydrogenase deficiency
39 Very long-chain acyl CoA dehydrogenase deficiency
40 Long chain L-3-hydroxyacyl CoA dehydrogenase – (trifunctional protein deficiency)
41 Short-chain acyl CoA dehydrogenase deficiency
42 3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency
43 Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency
44 Multiple acyl CoA dehydrogenase deficiency/Glutaric aciduria type II/Ethylmalonic-adipic aciduria
45 3-Hydroxy-3-methylglutaryl CoA lyase deficiency
Part 5 The lactic acidemias and mitochondrial disease
46 Introduction to the lactic acidemias
47 Pyruvate carboxylase deficiency
48 Fructose-1,6-diphosphatase deficiency
49 Deficiency of the pyruvate dehydrogenase complex
50 Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases
51 Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes
52 Myoclonic epilepsy and ragged red fiber disease
53 Neurodegeneration, ataxia and retinitis pigmentosa
54 Kearns-Sayre syndrome
55 Pearson syndrome
56 Mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency
Part 6 Disorders of carbohydrate metabolism
57 Galactosemia
58 Glycogen storage diseases: introduction
59 Glycogenosis type 1 – Von Gierke disease
60 Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency
61 Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency
Part 7 Peroxisomal disorders
62 Adrenoleukodystrophy
63 Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis
Part 8 Disorders of purine metabolism
64 Lesch-Nyhan disease and variants
65 Adenine phosphoribosyl-transferase deficiency
66 Phosphoribosylpyrophosphate synthetase and its abnormalities
67 Adenosine deaminase deficiency
68 Adenylsuccinate lyase deficiency
69 Orotic aciduria
Part 9 Disorders of transport and mineral metabolism
70 Cystinuria
71 Cystinosis
72 Hartnup disease
73 Histiniduria
74 Menkes disease
Part 10 Mucopolysaccharidoses
75 Introduction to mucopolysaccharidoses
76 Hurler disease/mucopolysaccharidosis type IH-L-iduronidase deficiency
77 Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and HIS/a-iduronidase deficiency
78 Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency
79 Sanfilippo disease/mucopolysaccharidosis type III
80 Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia
81 Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency
82 Sly disease/ß-glucuronidase deficiency/mucopolysaccharidosis VII
Part 11 Mucolipidoses
83 I-cell disease/mucolipidosis II
84 Mucolipidosis III/pseudo-Hurler polydystrophy /N-acetyl-glucosaminyl-1-phosphotransferase deficiency
Part 12 Disorders of cholesterol and neutral lipid metabolism
85 Familial hypercholesterolemia
86 Mevalonic aciduria
87 Lipoprotein lipase deficiency/type I hyperlipoproteinemia
Part 13 Lipid storage disorders
88 Fabry disease
89 GM1 gangliosidosis/ß-galactosidase deficiency
90 Tay-Sachs disease/hexosaminidase A deficiency
91 Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency
92 GM2 activator deficiency/GM2 gangliosidosis – deficiency of the activator protein
93 Gaucher disease
94 Niemann-Pick disease
95 Niemann-Pick type C disease/cholesterol-processing abnormality
96 Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy
97 Wolman disease/cholesteryl ester storage disease
98 Fucosidosis
99 a-Mannosidosis
100 Galactosialidosis
101 Metachromatic leukodystrophy
102 Multiple sulfatase deficiency
Part 14 Miscellaneous
103 Congenital disorder of glycosylation, type la
104 Other forms of congenital disorders of glycosylation
105 a1-Antitrypsin deficiency
106 Canavan disease/aspartoacylase deficiency
107 Ethylmalonic encephalopathy
108 Disorders of creatine synthesis or transport
Appendix
Index of disorders
Index of signs and symptoms

Autores: William L Nyhan, Bruce A Barshop, Aida I Al-Aqeel
Editorial: Hodder.Education
Edición: 3ª
Año: 2011
Páginas: 864
ISBN: 978-1-4441-5042-1
Idioma: Inglés

 

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