This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. 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. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book's main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.

"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.

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 ofLipid 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.