Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

  • Nenad Blau
  • Marinus Duran
  • K Michael Gibson
  • Carlo Dionisi Vici

Table of contents

  1. Front Matter
    Pages i-xlv
  2. Amino Acids

    1. Front Matter
      Pages 1-1
    2. Nenad Blau, Francjan J. van Spronsen
      Pages 3-21
    3. Elisabeth Holme, Grant A. Mitchell
      Pages 23-31
    4. Ivo Barić, Brian Fowler
      Pages 33-46
    5. Johannes Häberle, Vicente Rubio
      Pages 47-62
    6. Johan L. K. Van Hove, Janet A. Thomas
      Pages 63-83
    7. Manuel Palacín, Stefan Broer
      Pages 85-99
  3. Organic Acids

    1. Front Matter
      Pages 101-101
    2. Ina Knerr, Jerry Vockley, K. Michael Gibson
      Pages 103-141
    3. Stefan Kölker, Eduard A. Struys, Marjo S. van der Knaap, Cornelis Jakobs
      Pages 143-156
    4. Alberto Burlina, Massimo Zeviani
      Pages 157-163
  4. Vitamins, Cofactors, and Metals

    1. Front Matter
      Pages 165-165
    2. Fernando Scaglia, Nenad Blau
      Pages 167-178
    3. Barbara Plecko, Eduard A. Struys, Cornelis Jakobs
      Pages 179-190
    4. Günter Schwarz, Alex Veldman
      Pages 191-203
    5. Matthias R. Baumgartner, Brian Fowler
      Pages 205-218
    6. Bruce A. Barshop
      Pages 219-225
    7. Frédéric Sedel
      Pages 227-232
    8. Rita Horvath, Anne Lombès
      Pages 233-244
  5. Energy Metabolism

    1. Front Matter
      Pages 245-245
    2. Ute Spiekerkoetter, Marinus Duran
      Pages 247-264
    3. René Santer, Joerg Klepper, G. Peter A. Smit
      Pages 265-301
    4. Eva Morava, Rosalba Carrozzo
      Pages 313-322
    5. Khalid Hussain, Pascale De Lonlay
      Pages 323-336
    6. Paul de Laat, Richard Rodenburg, Jan Smeitink
      Pages 337-359
    7. Jörn Oliver Sass, Sarah C. Grünert
      Pages 361-371
  6. Organelles

    1. Front Matter
      Pages 373-373
    2. Bwee Tien Poll-The, Ronald J. A. Wanders
      Pages 375-397
    3. Carla Hollak, Matthias Kettwig, Lars Schlotawa, Robert Steinfeld
      Pages 399-435
    4. Zoltan Lukacs, Michael Beck
      Pages 437-448
    5. Giancarlo Parenti
      Pages 449-464
    6. Bernd Hoppe, Nenad Blau
      Pages 465-474
    7. Elena Levtchenko, Francesco Emma
      Pages 475-482
    8. Jaak Jaeken, Lambert van den Heuvel
      Pages 483-512
  7. Selected Disorder

    1. Front Matter
      Pages 513-513
    2. Thomas Opladen, Georg F. Hoffmann
      Pages 515-528
    3. Sylvia Stöckler, Olivier Braissant, Andreas Schulze
      Pages 529-540
    4. Ulrich Stölzel, Thomas Stauch, Manfred O. Doss
      Pages 541-554
    5. Hugh A. Lemonde, Paul Gissen, Peter T. Clayton
      Pages 555-576
    6. Mirjam M. C. Wamelink, Vassili Valayannopoulos, Cornelis Jakobs
      Pages 577-583
    7. Richard I. Kelley, Lisa Kratz
      Pages 585-600
    8. Anna Lauber-Biason
      Pages 601-616
    9. Ertan Mayatepek
      Pages 617-622
    10. Peter M. van Hasselt, Roderick H. J. Houwen
      Pages 623-632
    11. Vineta Fellman
      Pages 633-640
    12. Jörgen Bierau, Ivan Šebesta
      Pages 641-660
    13. Nenad Blau, Carlo Dionisi-Vici
      Pages 661-669
    14. Robert A. Hegele, Serena Tonstad
      Pages 671-689

About this book


This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to disorder category.  Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.


Biochemical genetics Disorder Inborn errors of metabolism Laboratory medicine Metabolism

Editors and affiliations

  • Nenad Blau
    • 1
  • Marinus Duran
    • 2
  • K Michael Gibson
    • 3
  • Carlo Dionisi Vici
    • 4
  1. 1.Department of General PediatricsUniversity Children's Hospital, Division of Inborn Metabolic DiseasesHeidelbergGermany
  2. 2.Laboratory Genetic Metabolic DiseasesUniversity of Amsterdam Academic Medical CentreAmsterdamThe Netherlands
  3. 3.Section of Clinical PharmacologyWashington State UniversitySpokaneUSA
  4. 4.Division of Metabolism, Department of Pediatric MedicineBambino Gesù Children’s Research HospitalRomeItaly

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2014
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-642-40336-1
  • Online ISBN 978-3-642-40337-8
  • Buy this book on publisher's site