Diagnosis and Treatment: General Principles -- A Clinical Approach to Inherited Metabolic Diseases -- Newborn Screening for Inborn Errors of Metabolism -- Diagnostic Procedures: Function Tests and Postmortem Protocol -- Emergency Treatments -- Treatment: Present Status and New Trends -- Disorders of Carbohydrate Metabolism -- The Glycogen Storage Diseases and Related Disorders -- Disorders of Galactose Metabolism -- Disorders of the Pentose Phosphate Pathway -- Disorders of Fructose Metabolism -- Persistent Hyperinsulinemic Hypoglycemia -- Disorders of Glucose Transport -- Disorders of Mitochondrial Energy Metabolism -- Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle -- Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways -- Disorders of Ketogenesis and Ketolysis -- Defects of the Respiratory Chain -- Creatine Deficiency Syndromes -- Disorders of Amino Acid Metabolism and Transport -- Hyperphenylalaninaemia -- Disorders of Tyrosine Metabolism -- Branched-Chain Organic Acidurias/Acidemias -- Disorders of the Urea Cycle and Related Enzymes -- Disorders of Sulfur Amino Acid Metabolism -- Disorders of Ornithine Metabolism -- Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism -- Nonketotic Hyperglycinemia (Glycine Encephalopathy) -- Disorders of Proline and Serine Metabolism -- Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder -- Vitamin-Responsive Disorders -- Biotin-Responsive Disorders -- Disorders of Cobalamin and Folate Transport and Metabolism -- Neurotransmitter and Small Peptide Disorders -- Disorders of Neurotransmission -- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides -- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency -- Disorders of Lipid and Bile Acid Metabolism -- Dyslipidemias -- Disorders of Cholesterol Synthesis -- Disorders of Bile Acid Synthesis -- Disorders of Nucleic Acid and Heme Metabolism -- Disorders of Purine and Pyrimidine Metabolism -- Disorders of Heme Biosynthesis -- Disorders of Metal Transport -- Disorders in the Transport of Copper, Zinc and Magnesium -- Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Disorders of Sphingolipid Metabolism -- Mucopolysaccharidoses and Oligosaccharidoses -- Peroxisomal Disorders -- Congenital Disorders of Glycosylation -- Cystinosis -- Primary Hyperoxalurias.

This henceforth classical textbook has become indispensable for those in the front line dealing with metabolic disorders. As with previous editions the book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised and John Walter has joined the three other editors. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included; for example defects involving the pentose phosphate pathway (polyols metabolism) and disorders of glucose transport. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables and has been entirely revised and extended to include adult metabolic medicine. It now incorporates many new findings particularly in neuroradiology and neurophysiology and emphasises those disorders for which treatment is available. This accessible and practical book can be used either by going directly to the relevant chapter when the diagnosis is already suspected or by referring to Chapter 1 if it is unknown. Despite the numerous updates the book has been maintained at a reasonable size and is published as a single volume of approximately 550 pages divided into 43 Chapters.