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Inborn Metabolic Diseases

Diagnosis and Treatment

  • Book
  • © 1990

Overview

Editors:
  1. John Fernandes

    1. Department of Pediatrics, University Hospital, Groningen, The Netherlands

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  2. Jean-Marie Saudubray

    1. Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris Cedex, France

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  3. Keiya Tada

    1. Department of Pediatrics, Tohoku University, School of Medicine, Sendai 980, Japan

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Table of contents (55 chapters)

  1. Front Matter

    Pages I-XXI
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  2. Part I

    1. Front Matter

      Pages 1-1
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    2. Clinical Approach to Inherited Metabolic Disorders

      • J.-M. Saudubray, H. Ogier
      Pages 3-25

  3. Diagnostic Procedures

    1. Front Matter

      Pages 27-27
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    2. The Exercise Test

      • N. Kono, S. Tarui
      Pages 29-32

    3. Substrate Detection

      • R. Berger
      Pages 33-38

    4. Selection of Tissue for the Enzyme Assay

      • R. Berger
      Pages 39-43

    5. Mass Spectrometry and Stable Isotopes

      • D. M. Bier
      Pages 45-53

    6. Magnetic Resonance Spectroscopy

      • D. J. Taylor
      Pages 55-65

  4. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 67-67
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    2. The Glycogen Storage Diseases

      • J. Fernandes
      Pages 69-88

    3. Muscle Glycogenoses

      • N. Kono, S. Tarui
      Pages 89-94

    4. Disorders of Galactose Metabolism

      • R. Gitzelmann
      Pages 95-105

    5. Disorders of Fructose Metabolism

      • M. Odièvre
      Pages 107-112

    6. Disorders of Gluconeogenesis

      • K. Baerlocher
      Pages 113-123

  5. Part IV

    1. Front Matter

      Pages 125-125
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    2. Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain

      • D. C. De Vivo, S. Di Mauro
      Pages 127-157

  6. Disorders of Aminoacids and Organic Acids

    1. Front Matter

      Pages 159-159
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    2. Phenylketonuria and Hyperphenylalaninemia

      • F. Güttler, H. Lou
      Pages 161-174

    3. Maternal Phenylketonuria

      • D. P. Brenton, M. E. Haseler
      Pages 175-182
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Keywords

About this book

The editors of Inborn Metabolic Diseases: Diagnosis and Treat­ ment are joined by coauthors from a world-class cadre to pro­ duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen­ eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con­ sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.

Editors and Affiliations

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

    John Fernandes

  • Clinique de Génétique Médicale, Hôpital des Enfants Malades, Paris Cedex, France

    Jean-Marie Saudubray

  • Department of Pediatrics, Tohoku University, School of Medicine, Sendai 980, Japan

    Keiya Tada

Bibliographic Information

  • Book Title: Inborn Metabolic Diseases

  • Book Subtitle: Diagnosis and Treatment

  • Editors: John Fernandes, Jean-Marie Saudubray, Keiya Tada

  • DOI: https://doi.org/10.1007/978-3-662-02613-7

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer-Verlag Berlin Heidelberg 1990

  • eBook ISBN: 978-3-662-02613-7Published: 17 April 2013

  • Edition Number: 1

  • Number of Pages: XXI, 730

  • Topics: Metabolic Diseases, Human Genetics, Pediatrics, Endocrinology, Biochemistry, general

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