Atlas of Inherited Metabolic Diseases 3E: 3rd Edition (Hardback) book cover

Atlas of Inherited Metabolic Diseases 3E

3rd Edition

By William L Nyhan, Georg F. Hoffmann, Bruce A Barshop, Aida I Al-Aqeel

CRC Press

888 pages | 680 Color Illus. | 160 B/W Illus.

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Hardback: 9781444112252
pub: 2011-12-30
eBook (VitalSource) : 9780429100710
pub: 2011-12-30
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In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. 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.

Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

Table of Contents

Organic acidemias


Propionic acidemia

Methylmalonic acidemia

Methylmalonic aciduria and homocystinuria (cobalamin C and C disease)

Multiple carboxylase deficiency/holocarboxylase synthetase deficiency

Multiple carboxylase deficiency/biotinidase deficiency

Isovaleric acidemia

Glutaric aciduria (type I)

3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria

D-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria

4-hydroxybutyric aciduria

Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency

Disorders of amino acid metabolism



Hyphenylalaninemia and defective metabolism of tetrahydrobiopterin

Biogenetic amines


Maple syrup urine disease (branched-chain oxoaciduria)

Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency

Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency

Nonketotic hyperglycinemia

Hyperammonemia and disorders of the urea cycle

Introduction to hyperammonemia and disorders of the urea cycle

Ornithine transcarbamylase deficiency

Carbamyl phosphate synthetase deficiency


Argininosuccinic aciduria


Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome

Lysinuric protein intolerance

Glutamine synthetase deficiency

Disorders of fatty acid oxidation

Introduction to disorders of fatty acid oxidation

Carnitine transporter deficiency

Carnitine: acylcarnitine translocase deficiency

Carnitine palmitoyl transferase I deficiency

Carnitine palmitoyl transferase II deficiency, lethal neonatal

Carnitine palmitoyl transferase II deficiency, late onset

Medium chain acyl CoA dehydrogenase deficiency

Very long-chain acyl CoA dehydrogenase deficiency

Long chain L-3-hydroxyacyl CoA dehydrogenase - (trifunctional protein deficiency)

Short-chain acyl CoA dehydrogenase deficiency

3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency

Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency

Multiple acyl CoA dehydrogenase deficiency/Glutaric aciduria type II/Ethylmalonic-adipic aciduria

3-Hydroxy-3-methylglutaryl CoA lyase deficiency

The lactic acidemias and mitochondrial disease

Introduction to the lactic acidemias

Pyruvate carboxylase deficiency

Fructose-1,6-diphosphatase deficiency

Deficiency of the pyruvate dehydrogenase complex

Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases

Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes

Myoclonic epilepsy and ragged red fiber disease

Neurodegeneration, ataxia and retinitis pigmentosa

Kearns-Sayre syndrome

Pearson syndrome

Mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency

Disorders of carbohydrate metabolism


Glycogen storage diseases: introduction

Glycogenosis type 1 - Von Gierke disease

Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency

Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency

Peroxisomal disorders


Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis

Disorders of purine metabolism

Lesch-Nyhan disease and variants

Adenine phosphoribosyl-transferase deficiency

Phosphoribosylpyrophosphate synthetase and its abnormalities

Adenosine deaminase deficiency

Adenylsuccinate lyase deficiency

Orotic aciduria

Disorders of transport and mineral metabolism



Hartnup disease


Menkes disease


Introduction to mucopolysaccharidoses

Hurler disease/mucopolysaccharidosis type IH-L-iduronidase deficiency

Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and HIS/a-iduronidase deficiency

Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency

Sanfilippo disease/mucopolysaccharidosis type III

Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia

Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency

Sly disease/ß-glucuronidase deficiency/mucopolysaccharidosis VII


I-cell disease/mucolipidosis II

Mucolipidosis III/pseudo-Hurler polydystrophy /N-acetyl-glucosaminyl-1-phosphotransferase deficiency

Disorders of cholesterol and neutral lipid metabolism

Familial hypercholesterolemia

Mevalonic aciduria

Lipoprotein lipase deficiency/type I hyperlipoproteinemia

Lipid storage disorders

Fabry disease

GM1 gangliosidosis/ß-galactosidase deficiency

Tay-Sachs disease/hexosaminidase A deficiency

Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency

GM2 activator deficiency/GM2 gangliosidosis - deficiency of the activator protein

Gaucher disease

Niemann-Pick disease

Niemann-Pick type C disease/cholesterol-processing abnormality

Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy

Wolman disease/cholesteryl ester storage disease




Metachromatic leukodystrophy

Multiple sulfatase deficiency


Congenital disorder of glycosylation, type la

Other forms of congenital disorders of glycosylation

a1-Antitrypsin deficiency

Canavan disease/aspartoacylase deficiency

Ethylmalonic encephalopathy

Disorders of creatine synthesis or transport

About the Authors

William L Nyhan MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA; Bruce A Barshop MD, PhD, Professor of Pediatrics, University of California, San Diego, CA, USA;
Aida I Al-Aqeel MD, DCH, FRCP, FACMG, Consultant and Head Pediatrics, Medical Genetics and Consultant Endocrinology, Riyadh Military Hospital, Riyadh, Saudi Arabia

Subject Categories

BISAC Subject Codes/Headings:
MEDICAL / General
MEDICAL / Genetics