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
  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter
      Pages 249-249
    2. John H. Walter, Robin H. Lachmann, Peter Burgard
      Pages 251-264
    3. Anupam Chakrapani, Paul Gissen, Patrick McKiernan
      Pages 265-276
    4. Hélène Ogier de Baulny, Carlo Dionisi-Vici, Udo Wendel
      Pages 277-296
    5. Frits A. Wijburg, Marie-Cécile Nassogne
      Pages 297-310
    6. Generoso Andria, Brian Fowler, Gianfranco Sebastio
      Pages 311-321
    7. Matthias R. Baumgartner, David Valle
      Pages 323-332
    8. Georg F. Hoffmann, Stefan Kölker
      Pages 333-347
    9. Olivier Dulac, Marie-Odile Rolland
      Pages 349-356
    10. Jaak Jaeken
      Pages 357-362
  6. Vitamin-Responsive Disorders

    1. Front Matter
      Pages 373-373
    2. Matthias R. Baumgartner, Terttu Suormala
      Pages 375-384
    3. David Watkins, David S. Rosenblatt, Brian Fowler
      Pages 385-402
  7. Neurotransmitter and Small Peptide Disorders

    1. Front Matter
      Pages 403-403
    2. Àngels García-Cazorla, K. Michael Gibson, Peter T. Clayton
      Pages 405-422
    3. Ertan Mayatepek, Jaak Jaeken
      Pages 423-430
    4. Valerie Walker, Ron A. Wevers
      Pages 431-435
  8. Disorders of Lipid and Bile Acid Metabolism

    1. Front Matter
      Pages 437-437
    2. Annabelle Rodriguez-Oquendo, Peter O. Kwiterovich Jr.
      Pages 439-460
    3. Hans R. Waterham, Peter T. Clayton
      Pages 461-471
    4. Peter T. Clayton
      Pages 473-484
    5. Foudil Lamari, Frédéric Sedel, Jean-Marie Saudubray
      Pages 485-495
  9. Disorders of Nucleic Acid and Heme Metabolism

    1. Front Matter
      Pages 497-497
    2. Georges van den Berghe, M.-Françoise Vincent, Sandrine Marie
      Pages 499-518
    3. Charles Marquez Lourenço, Chul Lee, Karl E. Anderson
      Pages 519-532
  10. Disorders of Metal Transport

    1. Front Matter
      Pages 533-533
    2. Marc Bierings, Peter T. Clayton, Roderick H.J. Houwen
      Pages 535-551
  11. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

    1. Front Matter
      Pages 553-553
    2. Marie T. Vanier, Catherine Caillaud
      Pages 555-577

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
  • Buy this book on publisher's site
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