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  • © 2006

Inborn Metabolic Diseases

Diagnosis and Treatment


(view affiliations)
  • Main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation

  • Clinical approach is the starting point for each chapter

  • Reference to diagnostic options

  • Includes supplementary material:

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Price excludes VAT (USA)
  • ISBN: 978-3-540-28785-8
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Table of contents (43 chapters)

  1. Front Matter

    Pages I-XXII
  2. Diagnosis and Treatment: General Principles

    1. Front Matter

      Pages 1-1
    2. A Clinical Approach to Inherited Metabolic Diseases

      • Jean-Marie Saudubray, Isabelle Desguerre, Frédéric Sedel, Christiane Charpentier
      Pages 3-48
    3. Diagnostic Procedures: Function Tests and Postmortem Protocol

      • Guy Touati, Jan Huber, Jean-Marie Saudubray
      Pages 59-69
    4. Emergency Treatments

      • Viola Prietsch, Hélène Ogier de Baulny, Jean-Marie Saudubray
      Pages 71-79
    5. Treatment: Present Status and New Trends

      • John H. Walter, J. Ed Wraith
      Pages 81-97
  3. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 99-99
    2. The Glycogen Storage Diseases and Related Disorders

      • G. Peter A. Smit, Jan Peter Rake, Hasan O. Akman, Salvatore DiMauro
      Pages 101-119
    3. Disorders of Galactose Metabolism

      • Gerard T. Berry, Stanton Segal, Richard Gitzelmann
      Pages 121-130
    4. Disorders of the Pentose Phosphate Pathway

      • Nanda M. Verhoeven, Cornelis Jakobs
      Pages 131-134
    5. Disorders of Fructose Metabolism

      • Beat Steinmann, René Santer, Georges van den Berghe
      Pages 135-142
    6. Persistent Hyperinsulinemic Hypoglycemia

      • Pascale de Lonlay, Jean-Marie Saudubray
      Pages 143-149
    7. Disorders of Glucose Transport

      • René Santer, Jörg Klepper
      Pages 151-157
  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter

      Pages 159-159
    2. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

      • Linda J. De Meirleir, Rudy Van Coster, Willy Lissens
      Pages 161-174
    3. Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways

      • Charles A. Stanley, Michael J. Bennett, Ertan Mayatepek
      Pages 175-190
    4. Disorders of Ketogenesis and Ketolysis

      • Andrew A. M. Morris
      Pages 191-196
    5. Defects of the Respiratory Chain

      • Arnold Munnich
      Pages 197-209
    6. Creatine Deficiency Syndromes

      • Sylvia Stöckler-Ipsiroglu, Gajja S. Salomons
      Pages 211-217

About this book

Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.


  • Internist
  • inborn errors of metabolism
  • metabolic disease
  • metabolic diseases
  • metabolic disorder
  • metabolism
  • neuroradiology
  • physiology
  • radiology


"[This title] is a pleasure to read...Written by clinicians for clinicians... It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles... this is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)

Editors and Affiliations

  • Department of Pediatrics, University Hospital Groningen, Epe, The Netherlands

    John Fernandes

  • Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, Paris Cedex 15, France

    Jean-Marie Saudubray

  • Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Brussels, Belgium

    Georges Berghe

  • Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Pendlebury, Manchester, UK

    John H. Walter

Bibliographic Information

  • Book Title: Inborn Metabolic Diseases

  • Book Subtitle: Diagnosis and Treatment

  • Editors: John Fernandes, Jean-Marie Saudubray, Georges Berghe, John H. Walter

  • DOI:

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2006

  • eBook ISBN: 978-3-540-28785-8

  • Edition Number: 4

  • Number of Pages: XXII, 561

  • Number of Illustrations: 65 b/w illustrations

  • Topics: Pediatrics, Medical Genetics, Endocrinology, Neurology

Buying options

USD 159.00
Price excludes VAT (USA)
  • ISBN: 978-3-540-28785-8
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout