Inherited Metabolic Diseases

A Clinical Approach

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

Table of contents

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

  3. Approach to the Patient with Metabolic Disease

    1. William L. Nyhan
      Pages 15-23
    2. William L. Nyhan
      Pages 25-31
    3. William L. Nyhan
      Pages 32-34
    4. William L. Nyhan
      Pages 35-38
    5. William L. Nyhan
      Pages 39-43
    6. William L. Nyhan
      Pages 44-47
    7. William L. Nyhan
      Pages 48-50
    8. Georg F. Hoffmann
      Pages 51-54
    9. Georg F. Hoffmann, William L. Nyhan
      Pages 55-59
    10. William L. Nyhan, Georg F. Hoffmann
      Pages 61-61
    11. William L. Nyhan
      Pages 63-66
  4. Organ Systems in Metabolic Disease

    1. Joachim Kreuder, Stephen G. Kahler
      Pages 69-88
    2. Georg F. Hoffmann, Guido Engelmann
      Pages 89-108
    3. Stephen G. Kahler
      Pages 109-116
    4. William L. Nyhan
      Pages 117-126
    5. Angels García-Cazorla, Nicole I. Wolf, Georg F. Hoffmann
      Pages 127-159

About this book


The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options.  ‘Inherited Metabolic Disease – A Clinical Approach’ 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. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.


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

Editors and affiliations

  • Georg F. Hoffmann
    • 1
  • Johannes Zschocke
    • 2
  • William L. Nyhan
    • 3
  1. 1.University Children's HospitalRuprecht-Karls-UniversityHeidelbergGermany
  2. 2.Divisions of Human Genetics and Clinical GeneticsMedical University InnsbruckInnsbruckAustria
  3. 3.San Diego School of Medicine, Department of PediatricsUniversity of CaliforniaLa JollaUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2010
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-540-74722-2
  • Online ISBN 978-3-540-74723-9
  • About this book