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  • © 2012

Inborn Metabolic Diseases

Diagnosis and Treatment

  • Being up to date: Status Quo and Trends of Treatment

  • Standard textbook in this interdisciplinary field

  • Extensively revised and updated

  • Including errors affecting adults

  • Includes supplementary material:

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eBook USD 179.00
Price excludes VAT (USA)
  • ISBN: 978-3-642-15720-2
  • Instant PDF download
  • Readable on all devices
  • Own it forever
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  • Tax calculation will be finalised during checkout

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Table of contents (43 chapters)

  1. Front Matter

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

    1. Front Matter

      Pages 1-1
    2. Newborn Screening for Inborn Errors of Metabolism

      • Bridget Wilcken, Piero Rinaldo, Dietrich Matern
      Pages 75-86
    3. Diagnostic Procedures: Functional Tests and Post-mortem Protocol

      • Guy Touati, Fanny Mochel, Daniel Rabier
      Pages 87-102
    4. Emergency Treatments

      • Carlo Dionisi-Vici, Hélène Ogier de Baulny
      Pages 103-111
  3. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 113-113
    2. The Glycogen Storage Diseases and Related Disorders

      • Pascal Laforêt, David A. Weinstein, G. Peter A. Smit
      Pages 115-139
    3. Disorders of Galactose Metabolism

      • Gerard T. Berry, John H. Walter
      Pages 141-150
    4. Disorders of the Pentose Phosphate Pathway

      • Mirjam M. C. Wamelink, Vassili Valayannopoulos, Cornelis Jakobs
      Pages 151-155
    5. Disorders of Fructose Metabolism

      • Beat Steinmann, René Santer
      Pages 157-165
    6. Persistent Hyperinsulinaemic Hypoglycaemia

      • Pascale de Lonlay, Jean-Marie Saudubray
      Pages 167-174
    7. Disorders of Glucose Transport

      • René Santer, Jörg Klepper
      Pages 175-183
  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter

      Pages 185-185
    2. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

      • Linda J. De Meirleir, Michèle Brivet, Angels Garcia-Cazorla
      Pages 187-200
    3. Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways

      • Andrew A. M. Morris, Ute Spiekerkoetter
      Pages 201-216
    4. Disorders of Ketogenesis and Ketolysis

      • Andrew A.M. Morris
      Pages 217-222
    5. Defects of the Respiratory Chain

      • Arnold Munnich, Agnès Rötig, Marlène Rio
      Pages 223-238
    6. Creatine Deficiency Syndromes

      • 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


From the reviews of the fifth edition:

“The authors did an impressive job making sure the book was up to date, including discussions of therapies that are still in their experimental stages. … Inborn Metabolic Diseases is an excellent clinical guide and reference to this complex subject. It will be highly valuable to anyone who cares for patients with metabolic diseases, or for whom such diseases are regularly in the differential diagnosis.” (Daniel Kenney, Neurology, April, 2013)

“This clearly written update on a highly complex group of inherited metabolic disorders describes childhood-onset and adult-onset inherited conditions. … the book is most useful for pediatric subspecialists (e.g., clinical geneticists, neurologists), although it covers adult-onset metabolic diseases as well. … This is an outstanding book about the complex and mostly newly described field of clinical biochemical genetics. This fifth edition offers the most current overview of a rapidly evolving specialty which has relevance to all areas of medical practice.” (Hans Christoph Andersson, Doody’s Book Reviews, October, 2012)

Editors and Affiliations

  • Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris, France

    Jean-Marie Saudubray

  • Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Brussels, Belgium

    Georges Berghe

  • Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Manchester, UK

    John H. Walter

About the editors

Professor Jean-Marie Saudubray, M.D., Director of the Metabolic/Diabetes Unit, Dep. of Pediatrics, Hopital Necker Enfants Malades, Paris, France

Professor Georges van den Berghe, Professor, Metabolic Research Group, University of Louvain Medical School, Brussels, Belgium

Dr. John H. Walter, Willink Biochemical Genetics Unit, Royal Manchester Children´s Hospital, Manchester, Great Britain

Bibliographic Information

  • Book Title: Inborn Metabolic Diseases

  • Book Subtitle: Diagnosis and Treatment

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

  • DOI:

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2012

  • eBook ISBN: 978-3-642-15720-2

  • Edition Number: 5

  • Number of Pages: XXVIII, 660

  • Topics: Pediatrics, Medical Genetics, Endocrinology, Neurology

Buying options

eBook USD 179.00
Price excludes VAT (USA)
  • ISBN: 978-3-642-15720-2
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout