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
    6. Stephen G. Kahler
      Pages 161-176
    7. Ertan Mayatepek
      Pages 177-180
    8. Alberto Burlina, Alessandro P. Burlina
      Pages 181-196
    9. Carlo Dionisi-Vici, May El Hachem, Enrico Bertini
      Pages 197-217
    10. Ute Moog, Johannes Zschocke, Stephanie Grünewald
      Pages 219-232
    11. Ellen Crushell, Joe T R Clarke
      Pages 233-241
    12. Ertan Mayatepek
      Pages 243-248
  5. Investigations for Metabolic Diseases

    1. Piero Rinaldo, Dietrich Matern
      Pages 251-261
    2. K. M. Gibson, C. Jakobs
      Pages 263-281
    3. Ronald J. A. Wanders, Ben J. H. M. Poorthuis, Richard J. T. Rodenburg
      Pages 283-303
    4. Johannes Zschocke
      Pages 305-309
    5. Hans H. Goebel
      Pages 311-323
    6. Nicole I. Wolf
      Pages 325-333
    7. Piero Rinaldo
      Pages 335-338
    8. Johannes Zschocke
      Pages 339-355
  6. Back Matter
    Pages 362-620

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.


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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
  • Buy this book on publisher's site