Inherited Metabolic Diseases

A Clinical Approach

  • Georg F. Hoffmann
  • Johannes Zschocke
  • William L. Nyhan

Table of contents

  1. Front Matter
    Pages i-xvii
  2. Introduction to Inborn Errors of Metabolism

    1. Front Matter
      Pages 1-1
    2. Johannes Zschocke
      Pages 3-8
    3. Georg F. Hoffmann
      Pages 13-15
  3. Approach to the Patient

    1. Front Matter
      Pages 17-17
    2. William L. Nyhan
      Pages 19-28
    3. William L. Nyhan, Georg F. Hoffmann
      Pages 29-30
    4. Stefan Kölker
      Pages 41-43
    5. Steve Hannigan
      Pages 45-47
    6. Elaine Murphy
      Pages 61-80
    7. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 81-90
    8. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 91-94
    9. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 95-99
    10. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 101-106
    11. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 107-111
    12. William L. Nyhan, Stefan Kölker, Georg F. Hoffmann
      Pages 113-117

About this book


This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.


DNA Dietary Therapy Enzyme Replacement Therapy Gene Therapy Inborn Errors of Metabolism Metabolic Emergencies Metabolic Medicine Newborn Screening Mitochondrial disorders Myopathy Molecular Investigations Human Genetics Genetic Disease

Editors and affiliations

  • Georg F. Hoffmann
    • 1
  • Johannes Zschocke
    • 2
  • William L. Nyhan
    • 3
  1. 1.Department of PediatricsUniversity of HeidelbergHeidelbergGermany
  2. 2.Division of Human GeneticsMedical University InnsbruckInnsbruckAustria
  3. 3.Department of PediatricsUniversity of California San Diego La JollaUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-662-49408-0
  • Online ISBN 978-3-662-49410-3
  • About this book
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