9780412479601

Atlas of Metabolic Diseases

by ;
  • ISBN13:

    9780412479601

  • ISBN10:

    0412479605

  • Edition: 1st
  • Format: Hardcover
  • Copyright: 1999-01-28
  • Publisher: Hodder Education Publishers
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Supplemental Materials

What is included with this book?

Summary

This lavishly illustrated atlas is designed to be of practical assistance to physicians faced with a patient suffering from a metabolic disease, and will guide them through diagnosis, therapy, prognosis and genetic counselling.

Table of Contents

Preface vii
PART ONE Organic Acidemias 1(94)
Introduction
1(3)
Propionic acidemia
4(9)
Methylmalonic acidemia
13(11)
Methylmalonic aciduria and homocystinuria / Cobalamin C and D disease
24(3)
Multiple carboxylase deficiency / Holocarboxylase synthetase deficiency
27(6)
Multiple carboxylase deficiency / Biotindase deficiency
33(8)
Isovaleric acidemia
41(5)
Glutaric aciduria (type I)
46(7)
3-Methylcrotonyl CoA carboxylase deficiency / 3-Methylcrotonylglycinuria
53(4)
3-Methylgutaconic aciduria
57(7)
3-Hydroxyisobutyric aciduria
64(5)
Malonic aciduria with normal malonyl CoA decarboxylase
69(4)
D-2-Hydroxyglutaric aciduria
73(3)
L-2-Hydroxyglutaric aciduria
76(3)
2-Oxoadipic aciduria
79(3)
4-Hydroxybutyric aciduria
82(5)
3-Oxothiolase deficiency
87(8)
PART TWO Disorders of Amino Acid Metabolism 95(72)
Albinism
96(8)
Alkaptonuria
104(5)
Phenylketonuria (PKU)
109(8)
Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
117(9)
Homocystinuria
126(7)
Homocystinuria due to N(5,10)-methylene tetrahydrofolate reductase deficiency
133(5)
Maple syrup urine disease / Branched-chain oxoaciduria
138(9)
Oculocutaneous tyrosinemia / Tyrosine aminotransferase deficiency
147(6)
Hepatorenal tyrosinemia / Fumarylaceto-acetate hydrolase deficiency
153(7)
Nonketotic hyperglycinemia
160(7)
PART THREE Hyperammonemia and Disorders of the Urea Cycle 167(42)
Introduction
167(1)
Ornithine transcarbamylase deficiency
168(10)
Carbamyl phosphate synthetase deficiency
178(4)
Citrullinemia
182(6)
Argininosuccinic aciduria
188(6)
Argininemia
194(5)
Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome
199(5)
Lysinuric protein intolerance
204(5)
PART FOUR Disorders of Fatty Acid Oxidation 209(50)
Introduction
209(3)
Carnitine transporter deficiency
212(5)
Carnitine translocase deficiency
217(3)
Carnitine palmitoyl transferase I deficiency
220(3)
Medium-chain acyl CoA dehydrogenase (MCAD) deficiency
223(6)
Very long-chain acyl CoA dehydrogenase (VLCAD) deficiency
229(2)
Long-chain acyl CoA dehydrogenase (LCAD) deficiency
231(4)
Long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency / Trifunctional protein deficiency
235(5)
Short-chain acyl CoA dehydrogenase (SCAD) deficiency
240(3)
Short-chain 3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency
243(2)
Multiple acyl CoA dehydrogenase deficiency / Glutaric aciduria, type II / Ethylmalonic-adipic aciduria
245(8)
3-Hydroxy-3-methyglutaryl CoA lyase deficiency
253(6)
PART FIVE The Lactic Acidemias and Mitochondrial Disease 259(62)
Introduction
259(8)
Pyruvate carboxylase deficiency
267(6)
fructose-1,6-diphosphatase deficiency
273(5)
Deficiency of the pyruvate dehydrogenase complex (PDHC)
278(8)
Lactic acidemias and defective activity of pyruvate, 2-oxoglutarate and branched-chain oxoacid dehydrogenases
286(6)
Myoclonic epilepsy and ragged red fibre (MERRF) disease
292(5)
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
297(7)
Neurodegeneration, ataxia and retinitis pigmentosa (NARP)
304(5)
Pearson syndrome
309(5)
The mitochondrial DNA depletion syndromes: Mitochondrial DNA polymerase deficiency / by Robert Naviaux
314(7)
PART SIX Disorders of Carbohydrate Metabolism 321(36)
Galactosemia
322(8)
Glycogenosis type Ia / von Gierke disease / Glucose-6-phosphate deficiency
330(11)
Glycogenesis type II / Pompe / Lysosomal α-glucosidase deficiency
341(7)
Amylo- 1,6-glucosidase (debrancher) deficiency / Glycogenosis type III
348(9)
PART SEVEN Peroxisomal Disorders 357(18)
Adrenoleukodystrophy
358(8)
Neonatal adrenoleukodystrophy
366(9)
PART EIGHT Disorders of Purine Metabolism 375(30)
Lesch-Nyhan disease
376(7)
Non-Lesch-Nyhan variants of HPRT
383(6)
Adenine phosphoribosyltransferase (APRT) deficiency
389(4)
Phosphoribosylpyrophosphate synthetase and its abnormalities
393(3)
Adenosine deaminase deficiency
396(5)
Adenylosuccinate lyase deficiency
401(4)
PART NINE Disorders of Transport and Mineral Metabolism 405(34)
Cystinuria
406(7)
Cystinosis
413(7)
Hartnup disease
420(3)
Histidinuria
423(2)
Menkes disease
425(6)
Wilson disease
431(8)
PART TEN Mucopolysaccharidoses 439(48)
Hurler disease / Mucopolysaccharidosis type IH (MPSIH) / α-L-Iduronidase deficiency
440(9)
Scheie and Hurler-Scheie diseases / Mucopolysaccharidosis IS and I H / S α-iduronidase deficiency
449(6)
Hunter diseae / Mucopoly-saccharidosis type II (MPS II) / Iduronate sulfatase deficiency
455(7)
Sanfillipo disease / Mucopoly-saccharidosis type III (MPS III)
462(7)
Morquio syndrome / Mucopoly-saccharidosis type IV (MPS IV) / Keratan sulfaturia
469(6)
Maroteaux-Lamy disease / Mucopolysaccharidosis VI (MPS VI) / N-acetylgalctosamine-4-sulfatase deficiency
475(7)
Sly disease / β-Glucuronidase deficiency / Mucopolysaccharidosis VII (MPS VII)
482(5)
PART ELEVEN Mucolipidoses 487(14)
I-cell disease / Mucolipidosis II
488(7)
Mucolipidosis III / Pseudohurler polydystrophy / N-acetylglucosaminyl-phosphotransferase deficiency
495(6)
PART TWELVE Disorders of Cholesterol and Neutral Lipid Metabolism 501(22)
Familial hypercholesterolemia
502(8)
Mevalonic aciduria
510(5)
Lipoprotein lipase deficiency / Type I hyperlipoproteinemia
515(8)
PART THIRTEEN Lipid Storage Disorders 523(100)
Fabry disease
524(5)
GM1 gangliosidosis / β-Galactosidase deficiency
529(10)
Tay-Sachs disease / Hexosaminidase A deficiency
539(8)
Sandhoff disease / GM2 gangliosidosis / Deficiency of hexosaminidase A and B / β-Subunit deficiency
547(7)
GM2 activator deficiency / GM2 gangliosidosis - deficiency of the activator protein
554(3)
Gaucher disease
557(9)
Niemann-Pick disease
566(9)
Niemann-Pick type C disease / Cholesterol processing abnormality
575(6)
Krabbe disease / Galactosylceramide lipidosis / Globoid cell leukodystrophy
581(5)
Wolman disease
586(6)
Fucosidosis
592(4)
α-Mannosidosis
596(6)
Galactosialidosis
602(6)
Metachromatic leukodystrophy
608(6)
Multiple sulfatase deficiency
614(9)
PART FOURTEEN Miscellaneous 623(28)
Carbohydrate-deficient glycoprotein syndrome
624(6)
α1-Antitrypsin deficiency
630(7)
Canavan disease / Aspartoacylase deficiency
637(6)
Glutamyl ribose-5-phosphate storage disease / ADP-ribosyl protein lyase deficiency
643(3)
Ethylmalonic aciduria
646(5)
Appendix: Differential diagnosis of clinical phenotypes 651(4)
Disorders index 655(3)
Signs and symptoms index 658

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