* Provides a concise and user-friendly guide to the diagnosis and initial management of patients with metabolic diseases * Helps physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals * For metabolic and genetic specialists these indices will be helpful as a quick reference when being called for advice * Contains reader-friendly and logical structure and algorithms, including questions to answers * Includes an extensive amount of graphs, especially metabolic pathways, and an expanded index * Written by renowned and international experts of the field * Accompanied by CD-ROM with the whole content of the book including interactive tables and links The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients.Table of contentsIntroduction 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.