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.

Contents

Organic acidemias

Introduction

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

Alkaptonuria

Phenylketonuria

Hyphenylalaninemia and defective metabolism of tetrahydrobiopterin

Biogenetic amines

HomocystinuriMaple 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

Citrullinemia

Argininosuccinic aciduria

Argininemia

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,...