Inborn Metabolic Diseases

Diagnosis and Treatment

  • John Fernandes
  • Jean-Marie Saudubray
  • Georges Van den Berghe

Table of contents

  1. Front Matter
    Pages I-XII
  2. Diagnosis and Treatment: General Principles

    1. Front Matter
      Pages 1-1
    2. J. M. Saudubray, H. Ogier de Baulny, C. Charpentier
      Pages 3-41
    3. J. Fernandes, J.-M. Saudubray, J. Huber
      Pages 43-51
    4. H. Ogier de Baulny, J. M. Saudubray
      Pages 53-61
    5. J. H. Walter, J. E. Wraith
      Pages 75-84
  3. Disorders of Carbohydrate Metabolism

    1. Front Matter
      Pages 85-85
    2. J. Fernandes, G. P. A. Smit
      Pages 86-101
    3. R. Gitzelmann
      Pages 102-109
    4. Georges Van den Berghe
      Pages 110-116
    5. Pascale de Lonlay, Jean-Marie Saudubray
      Pages 118-123
  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter
      Pages 125-125
    2. Douglas S. Kerr, Isaiah D. Wexler, Arthur B. Zinn
      Pages 126-138
    3. C. A. Stanley
      Pages 140-150
    4. A. A. M. Morris
      Pages 152-156
    5. Arnold Munnich
      Pages 158-168
  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter
      Pages 169-169
    2. Isabel Smith, Philip Lee
      Pages 170-184
    3. Eli Anne Kvittingen, Elisabeth Holme
      Pages 186-194
    4. H. Ogier de Baulny, Jean-Marie Saudubray
      Pages 196-212
    5. J. V. Leonard
      Pages 214-222
    6. Generoso Andria, Brian Fowler, Gianfranco Sebastio
      Pages 224-231
    7. Vivian E. Shih, Sylvia Stöckler-Ipsiroglu
      Pages 232-240
    8. K. Tada
      Pages 254-258
  6. Vitamin-Responsive Disorders

    1. Front Matter
      Pages 275-275
    2. E. Regula Baumgartner, Terttu Suormala
      Pages 276-282
  7. Neurotransmitter and Small Peptide Disorders

    1. Front Matter
      Pages 299-299
    2. J. Jaeken, C. Jakobs, R. Wevers
      Pages 300-311
  8. Disorders of Lipid and Bile Acid Metabolism

    1. Front Matter
      Pages 319-320
    2. Annabelle Rodriguez-Oquendo, Peter O. Kwiterovich Jr.
      Pages 321-336
    3. Georg F. Hoffmann, Dorothea Haas
      Pages 338-342
    4. P. T. Clayton
      Pages 344-351
  9. Disorders of Nucleic Acid and Heme Metabolism

    1. Front Matter
      Pages 353-353
    2. G. van den Berghe, M.-F. Vincent, S. Marie
      Pages 354-368
    3. N. G. Egger, D. E. Goeger, K. E. Anderson
      Pages 370-382
  10. Disorders of Metal Transport

    1. Front Matter
      Pages 383-383
    2. Diane W. Cox, Zeynep Tümer, Eve A. Roberts
      Pages 384-391
    3. F. Jochum, I. Lombeck
      Pages 393-398
  11. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

    1. Front Matter
      Pages 399-399
    2. Peter G. Barth
      Pages 400-412
    3. B. T. Poll-The, J.-M. Saudubray
      Pages 422-431
    4. M. Broyer
      Pages 438-444

About this book


The diagnosis and treatment of metabolic diseases represent the main issues of this clinical book. Each disease-related chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and a short explanation of its major functions. The position of the figure on the left hand page facilitates its consultation when reading the text further. A short clinical abstract on the title page of the chapter is followed by the headings clinical presentation, metabolic derangement, diagnostis (and diagnostic tests), treatment and prognosis, genetics (main abnormalities only) and references, in a fixed order. As to treatment, this involves emergency treatment, maintenance treatment and, if applicable, treatment in the adult.
Five chapters on general principles of diagnosis and treatment precede the chapters on specific disorders. The first is the most important chapter, since it is an introduction to the clinical approach to inborn metabolic disease (see Preface). The others deal with diagnostic, procedures, emergency treatment, psychosocial care, and, last but not least, the present status of treatments, with comprehensive lists, as well as new trends of treatment.


Insulin Organelle amino acid inborn errors of metabolism metabolic disease metabolic diseases metabolism neurotransmitter protein

Editors and affiliations

  • John Fernandes
    • 1
  • Jean-Marie Saudubray
    • 2
  • Georges Van den Berghe
    • 3
  1. 1.HattemThe Netherlands
  2. 2.Hospital Necker-Enfants MaladesParis Cedex 15France
  3. 3.Institute of Cellular PathologyUniversité Catholique de LouvainBrusselsBelgium

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2000
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Print ISBN 978-3-662-04287-8
  • Online ISBN 978-3-662-04285-4
  • Buy this book on publisher's site
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