Inborn Metabolic Diseases

Diagnosis and Treatment

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

Table of contents

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

    1. Front Matter
      Pages 1-1
    2. Jean-Marie Saudubray, Isabelle Desguerre, Frédéric Sedel, Christiane Charpentier
      Pages 3-48
    3. Guy Touati, Jan Huber, Jean-Marie Saudubray
      Pages 59-69
    4. Viola Prietsch, Hélène Ogier de Baulny, Jean-Marie Saudubray
      Pages 71-79
    5. John H. Walter, J. Ed Wraith
      Pages 81-97
  3. Disorders of Carbohydrate Metabolism

    1. Front Matter
      Pages 99-99
    2. G. Peter A. Smit, Jan Peter Rake, Hasan O. Akman, Salvatore DiMauro
      Pages 101-119
    3. Gerard T. Berry, Stanton Segal, Richard Gitzelmann
      Pages 121-130
    4. Nanda M. Verhoeven, Cornelis Jakobs
      Pages 131-134
    5. Beat Steinmann, René Santer, Georges van den Berghe
      Pages 135-142
    6. Pascale de Lonlay, Jean-Marie Saudubray
      Pages 143-149
    7. René Santer, Jörg Klepper
      Pages 151-157
  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter
      Pages 159-159
    2. Linda J. De Meirleir, Rudy Van Coster, Willy Lissens
      Pages 161-174
    3. Charles A. Stanley, Michael J. Bennett, Ertan Mayatepek
      Pages 175-190
    4. Andrew A. M. Morris
      Pages 191-196
    5. Arnold Munnich
      Pages 197-209
    6. Sylvia Stöckler-Ipsiroglu, Gajja S. Salomons
      Pages 211-217
  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter
      Pages 219-220
    2. John H. Walter, Philip J. Lee, Peter Burgard
      Pages 221-232
    3. Anupam Chakrapani, Elisabeth Holme
      Pages 233-243
    4. Udo Wendel, Hélène Ogier de Baulny
      Pages 245-262
    5. James V. Leonard
      Pages 263-272
    6. Generoso Andria, Brian Fowler, Gianfranco Sebastio
      Pages 273-282
    7. Vivian E. Shih, Matthias R. Baumgartner
      Pages 283-291
    8. Olivier Dulac, Marie-Odile Rolland
      Pages 307-313
    9. Jaak Jaeken
      Pages 315-319
  6. Vitamin-Responsive Disorders

    1. Front Matter
      Pages 329-329
    2. Matthias R. Baumgartner, Terttu Suormala
      Pages 331-339
    3. David S. Rosenblatt, Brian Fowler
      Pages 341-356
  7. Neurotransmitter and Small Peptide Disorders

    1. Front Matter
      Pages 357-357
    2. Jaak Jaeken, Cornelis Jakobs, Peter T. Clayton, Ron A. Wevers
      Pages 359-372
    3. Ellinor Ristoff, Agne Larsson, Jaak Jaeken
      Pages 373-380
    4. Valerie Walker, Ron A. Wevers
      Pages 381-385
  8. Disorders of Lipid and Bile Acid Metabolism

    1. Front Matter
      Pages 387-387
    2. Annabelle Rodriguez-Oquendo, Peter O. Kwiterovich Jr.
      Pages 389-409
    3. Hans R. Waterham, Peter T. Clayton
      Pages 411-420
    4. Peter T. Clayton
      Pages 421-430
  9. Disorders of Nucleic Acid and Heme Metabolism

    1. Front Matter
      Pages 431-431
    2. Georges van den Berghe, M.-Françoise Vincent, Sandrine Marie
      Pages 433-449
    3. Norman G. Egger, Chul Lee, Karl E. Anderson
      Pages 451-464
  10. Disorders of Metal Transport

    1. Front Matter
      Pages 465-465
    2. Roderick H. J. Houwen
      Pages 467-476
  11. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems

    1. Front Matter
      Pages 477-477
    2. Marie-Thérèse Vanier
      Pages 479-494

About this book


Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute presentation in late infancy and beyond; chronic and progressive disease; and specific organ involvement. In addition a list of important symptoms or signs can be found at the end of the chapter which then refers either to the text, a table, a figure, an algorithm, a list of disorders, or a combination of these.


Internist inborn errors of metabolism metabolic disease metabolic diseases metabolic disorder metabolism neuroradiology physiology radiology

Editors and affiliations

  • John Fernandes
    • 1
  • Jean-Marie Saudubray
    • 2
  • Georges van den Berghe
    • 3
  • John H. Walter
    • 4
  1. 1.Department of PediatricsUniversity Hospital GroningenEpeThe Netherlands
  2. 2.Unité de Métabolisme, Département de PédiatrieHôpital Necker Enfants MaladesParis Cedex 15France
  3. 3.Metabolic Research Group, Christian de Duve Institute of Cellular PathologyUniversity of Louvain Medical SchoolBrusselsBelgium
  4. 4.Willink Biochemical Genetics UnitRoyal Manchester Children’s HospitalPendlebury, ManchesterUK

Bibliographic information

  • DOI
  • Copyright Information Springer Medizin Verlag Heidelberg 2006
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-540-28783-4
  • Online ISBN 978-3-540-28785-8
  • Buy this book on publisher's site
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