ntroduction to Inborn Errors of Metabolism.- Disorders of Intermediary Metabolism.- Disorders of the Biosynthesis and Breakdown of Complex Molecules.- Neurotransmitter Defects and Related Disorders.- Other Inborn Errors of Metabolism.- Approach to the Patient with Metabolic Disease.- Pathological Neonatal Screening Results.- Metabolic Emergencies.- Cardiovascular Abnormalities.- Hepatic Abnormalities.- Gastrointestinal and General Abdominal Symptoms.- Renal and Electrolyte Disturbances.- Neurological Symptoms.- Myopathies.- Psychiatric Problems.- Eye Disorders.- Skin and Hair Disorders.- Sceletal Abnormalities.- Congenital Malformations.- Hematological Abnormalities.- Immunological Problems.- Peculiar Odour.- Investigations for Metabolic Disease.- Biochemical Studies.- Enzyme Studies.- DNA Studies.- Function Tests.- Other Investigations.- Postmodern Investigations.- Work-up for an Unclassified Multisystem Disease.- Work-up for a Possible Mitochondrial Disorder.- Indications for Lumbar Puncture.- Prenatal Diagnosis.- Family Analyses - Carrier Analysis.- Appendix