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

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
  • Print ISBN 978-3-642-40336-1
  • Online ISBN 978-3-642-40337-8
  • About this book