Inborn Metabolic Diseases

Diagnosis and Treatment

  • Jean-Marie Saudubray
  • Matthias R. Baumgartner
  • John Walter

Table of contents

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

    1. Front Matter
      Pages 1-1
    2. Jean-Marie Saudubray, Angels Garcia-Cazorla
      Pages 3-70
    3. Guy Touati, Fanny Mochel, Daniel Rabier
      Pages 91-107
    4. Manuel Schiff, Fanny Mochel, Carlo Dionisi-Vici
      Pages 109-117
  3. Disorders of Carbohydrate Metabolism

    1. Front Matter
      Pages 119-119
    2. John Walter, Philippe A. Labrune, Pascal Laforet
      Pages 121-137
    3. Gerard T. Berry, John Walter, Judith L. Fridovich-Keil
      Pages 139-147
    4. Mirjam M.C. Wamelink, Vassili Valayannopoulos, Barbara Garavaglia
      Pages 149-160
    5. Beat Steinmann, René Santer
      Pages 161-168
    6. Jean-Baptiste Arnoux, Pascale de Lonlay
      Pages 169-174
    7. René Santer, Joerg Klepper
      Pages 175-183
  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter
      Pages 185-185
    2. Linda de Meirleir, Angels Garcia-Cazorla, Michèle Brivet
      Pages 187-199
    3. Andrew A. M. Morris, Ute Spiekerkoetter
      Pages 201-213
    4. Andrew A. M. Morris
      Pages 215-221
    5. Shamima Rahman, Johannes A. Mayr
      Pages 223-242
    6. Sylvia Stöckler-Ipsiroglou, Saadet Mercimek-Mahmutoglu, Gajja S. Salomons
      Pages 243-248
  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter
      Pages 249-250
    2. Peter Burgard, Robin H. Lachmann, John Walter
      Pages 251-263
    3. Anupam Chakrapani, Paul Gissen, Patrick McKiernan
      Pages 265-275
    4. Manuel Schiff, Hélène Ogier de Baulny, Carlo Dionisi-Vici
      Pages 277-294
    5. Johannes Häberle, Vicente Rubio
      Pages 295-308
    6. Viktor Kožich, Andrew A. M. Morris, Henk J. Blom
      Pages 309-320
    7. Matthias R. Baumgartner, David Valle, Carlo Dionisi-Vici
      Pages 321-331
    8. Georg F. Hoffmann, Stefan Kölker
      Pages 333-348
    9. Johann L.K. Van Hove, Julia B. Hennermann, Curtis R. Coughlin II
      Pages 349-356
    10. Jaak Jaeken, Johannes Häberle, Olivier Dulac
      Pages 357-362
    11. Kirsti Näntö-Salonen, Manuel Schiff, Harri Niinikoski
      Pages 363-371
  6. Vitamin-Responsive Disorders

    1. Front Matter
      Pages 373-373
    2. Matthias R. Baumgartner, Terttu Suormala
      Pages 375-383
    3. David Watkins, David S. Rosenblatt, Brian Fowler
      Pages 385-399
    4. Garry Brown, Barbara Plecko
      Pages 401-412
  7. Neurotransmitter and Small Peptide Disorders

    1. Front Matter
      Pages 413-413
    2. Angels Garcia-Cazorla, Rafael Artuch, K. Michael Gibson
      Pages 415-427
  8. Disorders of Lipid and Bile Acid Metabolism

    1. Front Matter
      Pages 439-439
    2. Uma Ramaswami, Steve Humphries
      Pages 441-454
    3. Hans R. Waterham, Peter T. Clayton
      Pages 455-464
    4. Peter T. Clayton
      Pages 465-475
    5. Foudil Lamari, Jean-Marie Saudubray, Grant A. Mitchell
      Pages 477-491
  9. Disorders of Nucleic Acid and Heme Metabolism

    1. Front Matter
      Pages 493-493
    2. Sandrine Marie, Georges van den Berghe, Marie-Françoise Vincent
      Pages 495-513
    3. Charles Marquez Lourenço, Karl E. Anderson
      Pages 515-527
  10. Disorders of Metal Transport and Metabolism

    1. Front Matter
      Pages 529-529
    2. Peter M. van Hasselt, Peter T. Clayton, Roderick H. J. Houwen
      Pages 531-548
  11. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

    1. Front Matter
      Pages 549-549
    2. Simon Jones, Frits A. Wijburg
      Pages 577-590

About this book


This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas.


A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications.

Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles.

Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

The Editors

Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris.

Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich.

John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.


Disorders of metabolism Inborn errors of metabolism Inherited metabolic diseases Metabolic diseases Neonatal Screening Newborn Screening

Editors and affiliations

  • Jean-Marie Saudubray
    • 1
  • Matthias R. Baumgartner
    • 2
  • John Walter
    • 3
    • 4
  1. 1.Department of NeurologyNeurometabolic Unit, Hôpital Pitié SalpêtrièreParisFrance
  2. 2.Division of MetabolismUniversity Children’s HospitalZurichSwitzerland
  3. 3.Willink Biochemical Genetics Unit Manchester Centre for Genomic MedicineUniversity of ManchesterManchesterUK
  4. 4.Central Manchester University Hospitals NHS Foundation TrustSt Mary‘s HospitalManchesterUK

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag GmbH Germany 2016
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-662-49769-2
  • Online ISBN 978-3-662-49771-5
  • Buy this book on publisher's site
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