Inborn Metabolic Diseases

Diagnosis and Treatment

  • Jean-Marie Saudubray
  • Georges van den Berghe
  • John H. Walter

Table of contents

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

    1. Front Matter
      Pages 1-1
    2. Bridget Wilcken, Piero Rinaldo, Dietrich Matern
      Pages 75-86
    3. Guy Touati, Fanny Mochel, Daniel Rabier
      Pages 87-102
    4. Carlo Dionisi-Vici, Hélène Ogier de Baulny
      Pages 103-111
  3. Disorders of Carbohydrate Metabolism

    1. Front Matter
      Pages 113-113
    2. Pascal Laforêt, David A. Weinstein, G. Peter A. Smit
      Pages 115-139
    3. Gerard T. Berry, John H. Walter
      Pages 141-150
    4. Mirjam M. C. Wamelink, Vassili Valayannopoulos, Cornelis Jakobs
      Pages 151-155
    5. Beat Steinmann, René Santer
      Pages 157-165
    6. Pascale de Lonlay, Jean-Marie Saudubray
      Pages 167-174
    7. René Santer, Jörg Klepper
      Pages 175-183
  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter
      Pages 185-185
    2. Linda J. De Meirleir, Michèle Brivet, Angels Garcia-Cazorla
      Pages 187-200
    3. Andrew A. M. Morris, Ute Spiekerkoetter
      Pages 201-216
    4. Andrew A.M. Morris
      Pages 217-222
    5. Arnold Munnich, Agnès Rötig, Marlène Rio
      Pages 223-238
    6. Sylvia Stöckler-Ipsiroglu, Saadet Mercimek-Mahmutoglu, Gajja S. Salomons
      Pages 239-247

About this book


Being up to Date: Status Quo and Trends of Treatment

For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated.

What´s new

-          Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations

-          Numerous updates on diagnostic procedures and treatment

-          Newly discovered disorders.

As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.


disorders of metabolism inborn errors of metabolism inherited metabolic diseases metabolic diseases neonatal screening newborn screening

Editors and affiliations

  • Jean-Marie Saudubray
    • 1
  • Georges van den Berghe
    • 2
  • John H. Walter
    • 3
  1. 1.Department of Neurology Neurometabolic UnitHôpital Pitié Salpêtrière 47–83 Boulevard de l’HôpitalParisFrance
  2. 2.Laboratory of Physiological Chemistry de Duve InstituteUniversity of Louvain Medical SchoolBrusselsBelgium
  3. 3.Biochemical Genetics Unit Manchester Academic Health Science CentreCentral Manchester University Hospitals St Mary’s HospitalManchesterUK

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-15719-6
  • Online ISBN 978-3-642-15720-2
  • About this book