Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

  • Nenad Blau
  • James Leonard
  • Georg F. Hoffmann
  • Joe T. R. Clarke

Table of contents

  1. Front Matter
    Pages I-XVIII
  2. Initial Approaches

    1. Georg F. Hoffmann, Joe T.R. Clarke, James V. Leonard
      Pages 3-13
  3. Approach to Treatment

    1. Georg F. Hoffmann, Robert Surtees
      Pages 35-42
    2. Jaak Jaeken, Tom J. de Koning
      Pages 43-48
    3. Elisabeth Holme
      Pages 49-55
    4. Nenad Blau
      Pages 57-58
    5. Rebecca S. Wappner, K. Michael Gibson
      Pages 59-79
    6. Bruce A. Barshop
      Pages 81-92
    7. Alberto Burlina, John Walter
      Pages 93-97
    8. Ellinor Ristoff, Agne Larsson
      Pages 99-103
    9. Bridget Wilcken
      Pages 105-115
    10. James V. Leonard
      Pages 117-127
    11. Georg F. Hoffmann, Andreas Schulze
      Pages 129-138
    12. Susanne Schweitzer-Krantz
      Pages 139-145
    13. Hélène Ogier de Baulny, Andrea Superti-Furga
      Pages 147-160
    14. Jan Peter Rake, Gepke Visser, G. Peter A. Smit
      Pages 161-180
    15. René Santer, Jörg Klepper
      Pages 181-187
    16. Katrina M. Dipple, Edward R.B. McCabe
      Pages 189-193

About this book


The greatest dif?culty in life is to make knowledge effective, to convert it into practical wisdom. Sir William Osler. The inborn errors of metabolism, as a group of metabolic diseases, are re- tively rare and are sometimes called “orphan diseases. ” As a group, they account for about 1 in 2,500 births (Applegarth et al. 2000) and, as a cumulative group reaching 20 years of age, their prevalence is about 40 cases per 100,000 popu- tion. In terms of patient days of continuous supervision and care, hundreds of thousands of such days are involved per generation of these patients. Although experience with these diseases as a class may be small and people expert in their management may be relatively few, in the years to come many caregivers will become involved. This book offers help to them. Until the mid-twentieth century, hereditary metabolic and other genetic diseases were considered to be purely “genetic” problems. Destiny would take its course, treatment did not exist, and genetic counseling about recurrence risks was virtually all that could be offered. Phenylketonuria (PKU) was then shown to be a treatable genetic disease in which early diagnosis and effective treatment prevented the disease (mental retardation) in PKU. Other genetic diseases for which an environmental experience was an essential component of cause (e. g. , exposure to a dietary component or a drug) were then seen to yield to treatment.


Insulin Internist biosynthesis carbohydrate genetics lipoprotein management metabolic disease metabolic disorder metabolism mitochondria protein steroid therapy treatment

Editors and affiliations

  • Nenad Blau
    • 1
  • James Leonard
    • 2
  • Georg F. Hoffmann
    • 3
  • Joe T. R. Clarke
    • 4
  1. 1.Division of Clinical Chemistry and BiochemistryUniversity Children’s HospitalZurichSwitzerland
  2. 2.Biochemistry, Endocrinology and Metabolism UnitInstitute of Child HealthLondonUK
  3. 3.Universitätsklinik für Kinder- und JugendmedizinHeidelbergGermany
  4. 4.Division of Clinical & Metabolic GeneticsHospital for Sick ChildrenTorontoCanada

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2006
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-540-22954-4
  • Online ISBN 978-3-540-28962-3
  • About this book