The ? eld of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspeci? c initial clinical manifestations. The patient does not come to the physician with the diagnosis; the patient comes with a history, symptoms, and signs. This book starts with those and proceeds lo- cally through algorithms from questions to answers. Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. To utilize as broad an experience as possible, its concept has been extended from a pocket-size book written jointly by ? ve colleagues to a textbook combining the experience of over 20 expert metabolic physicians. It is now imbedded in the environment of Springer Pediatric Metabolic Medicine in addition to the disease-based approach in Inborn Metabolic Diseases edited by John Fernandes and colleagues as well the series edited by Nenad Blau and colleagues on speci? c biochemical diagnostics, laboratory methods, and treatment. A system and symptom-based approach to inherited metabolic diseases should help colleagues from different specialties to diagnose their patients and to come to an optimal program of therapy. For metabolic and genetic specialists, this book is designed as a quick reference for what may be (even for the specialist) infrequently encountered presentations. Heidelberg, Germany Georg F.

Introduction 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.