1;Preface;5 2;Contents;7 3;List of Contributors;19 4;I Diagnosis and Treatment: General Principles;24 4.1;1 A Clinical Approach to Inherited Metabolic Diseases;26 4.2;2 Newborn Screening for Inborn Errors of Metabolism;72 4.3;3 Diagnostic Procedures: Function Tests and Postmortem Protocol;81 4.4;4 Emergency Treatments;93 4.5;5 Treatment: Present Status and New Trends;103 5;II Disorders of Carbohydrate Metabolism;121 5.1;6 The Glycogen Storage Diseases and Related Disorders;123 5.2;7 Disorders of Galactose Metabolism;143 5.3;8 Disorders of the Pentose Phosphate Pathway;153 5.4;Disorders of Fructose Metabolism;157 5.5;10 Persistent Hyperinsulinemic Hypoglycemia;165 5.6;11 Disorders of Glucose Transport;173 6;III Disorders of Mitochondrial Energy Metabolism;181 6.1;12 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle;183 6.2;13 Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways;197 6.3;14 Disorders of Ketogenesis and Ketolysis;213 6.4;15 Defects of the Respiratory Chain;219 6.5;16 Creatine Deficiency Syndromes;233 7;IV Disorders of Amino Acid Metabolism and Transport;241 7.1;17 Hyperphenylalaninaemia;243 7.2;18 Disorders of Tyrosine Metabolism;255 7.3;19 Branched- Chain Organic Acidurias/ Acidemias;267 7.4;20 Disorders of the Urea Cycle and Related Enzymes;285 7.5;21 Disorders of Sulfur Amino Acid Metabolism;295 7.6;22 Disorders of Ornithine Metabolism;305 7.7;23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism;315 7.8;24 Nonketotic Hyperglycinemia (Glycine Encephalopathy);329 7.9;25 Disorders of Proline and Serine Metabolism;337 7.10;26 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder;343 8;V Vitamin-Responsive Disorders;352 8.1;27 Biotin-Responsive Disorders;353 8.2;28 Disorders of Cobalamin and Folate Transport and Metabolism;363 9;VI Neurotransmitter and Small Peptide Disorders;379 9.1;29 Disorders of Neurotransmission;381 9.2;30 Disorders in the Metabolism of Glutathione and Imidazole Dipeptides;395 9.3;31 Trimethylaminuria and Dimethyl glycine Dehydrogenase Deficiency;403 10;VII Disorders of Lipid and Bile Acid Metabolism;409 10.1;32 Dyslipidemias;411 10.2;33 Disorders of Cholesterol Synthesis;433 10.3;34 Disorders of Bile Acid Synthesis;443 11;VIII Disorders of Nucleic Acid and Heme Metabolism;454 11.1;35 Disorders of Purine and Pyrimidine Metabolism;455 11.2;36 Disorders of Heme Biosynthesis;473 11.3;37 Disorders in the Transport of Copper, Zinc and Magnesium;489 12;X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre- Golgi Systems;500 12.1;38 Disorders of Sphingolipid Metabolism;501 12.2;39 Mucopolysaccharidoses and Oligosaccharidoses;517 12.3;40 Peroxisomal Disorders;531 12.4;41 Congenital Disorders of Glycosylation;545 12.5;42 Cystinosis;553 12.6;43 Primary Hyperoxalurias;561 13;Subject Index;569