Inborn Metabolic Diseases

I Diagnosis and Treatment: General Principles.- 1 Clinical Approach to Inherited Metabolic Diseases.- 2 Diagnostic Procedures: Function Tests and Postmortem Protocol.- 3 Emergency Treatments.- 4 Psychosocial Care of the Child and Family.- II Carbohydrate Metabolism.- 5 Glycogen Storage Diseases.- 6 Disorders of Galactose Metabolism.- 7 Disorders of Fructose Metabolism.- 8 Disorders of Gluconeogenesis.- III Mitochondrial Energy Metabolism.- 9 The Pyruvate Dehydrogenase Complex and Tricarboxylic Acid Cycle.- 10 The Respiratory Chain.- 11 Disorders of Fatty Acid Oxidation.- IV Aminoacids.- 12 Hyperphenylalaninaemias.- 13 Tyrosine.- 14 Urea Cycle Disorders.- 15 Homocystinuria Due to Cystathionine ?-Synthase Deficiency and Related Disorders.- 16 Ornithine.- 17 Nonketotic Hyperglycinemia.- V Peptide Metabolism.- 18 Disorders of the Gamma Glutamyl Cycle.- 19 Disorders of Small Peptides.- VI Organic Acids.- 20 Branched-Chain Organic Acidurias.- 21 Ketolysis Defects.- 22 Glutaric Aciduria Type I and Related Cerebral Organic Acid Disorders.- VII Vitamin-Responsive Disorders.- 23 Biotin-Responsive Multiple Carboxylase Deficiency.- 24 Inherited Disorders of Cobalamin and Folate Absorption and Metabolism.- VIII Lipids.- 25 Dyslipidemias.- IX Nucleic Acids.- 26 Disorders of Purine and Pyrimidine Metabolism.- X Neurotransmitters.- 27 Disorders of Neurotransmitters.- XI Metals.- 28 Copper: Wilson and Menkes Diseases.- 29 Genetic Defects Related to Metals Other Than Copper.- XII Porphyrins and Herne.- 30 Porphyrias.- 31 Inborn Errors of Bile Acid Synthesis.- 32 Bilirubin.- XIII Membrane Transport.- 33 Alpha-l-Antitrypsin Deficiency.- 34 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance.- XIV Organelle Disorders:Lysosomes, Golgi and Pre-Golgi Systems, Peroxisomes.- 35 Sphingolipids.- 36 Mucopolysaccharides and Oligosaccharides.- 37 Cystinosis.- 38 Carbohydrate-Deficient Glycoprotein Syndromes.- 39 Peroxisomal Disorders.- 40 Oxalosis (Primary Hyperoxaluria).- XV New Trends of Treatment.- 41 Liver Transplantation.- 42 Bone Marrow Transplantation.- 43 Somatic Gene Therapy.