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Medicine - Pediatrics | Inherited Metabolic Diseases - A Clinical Approach

Inherited Metabolic Diseases

A Clinical Approach

Hoffmann, Georg F., Zschocke, Johannes, Nyhan, William L. (Eds.)

2010, XIV, 386 p.


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  • 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
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.

Content Level » Professional/practitioner

Keywords » DNA - Inborn Errors of Metabolism - biopsy - care - diagnosis - differential diagnosis - management - medicine - metabolic disease - metabolic disorder - metabolism - prenatal diagnosis - screening - skin - treatment

Related subjects » Human Genetics - Internal Medicine - Medicine - Neurology - Pathology - Pediatrics

Table of contents 

to Inborn Errors of Metabolism.- Disorders of Intermediary Metabolism.- Disorders of the Biosynthesis and Breakdown of Complex Molecules.- Neurotransmitter Defects and Related Disorders.- Approach to the Patient with Metabolic Disease.- When to Suspect Metabolic Disease.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Metabolic Emergencies.- Patient Care and Treatment.- Anesthesia and Metabolic Disease.- Organ Systems in Metabolic Disease.- Approach to the Patient with Cardiovascular Disease.- Liver Disease.- Gastrointestinal and General Abdominal Symptoms.- Kidney Disease and Electrolyte Disturbances.- Neurological Disease.- Metabolic Myopathies.- Psychiatric Disease.- Eye Disorders.- Skin and Hair Disorders.- Physical Abnormalities in Metabolic Diseases.- Hematological Disorders.- Immunological Problems.- Investigations for Metabolic Diseases.- Newborn Screening for Inherited Metabolic Disease.- Biochemical Studies.- Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases.- DNA Studies.- Pathology — Biopsy.- Suspected Mitochondrial Disorder.- Postmortem Investigations.- Function Tests.- Family Issues, Carrier Tests, and Prenatal Diagnosis.

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