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. Selected Disorder

    1. Stephen I. Goodman, Marinus Duran
      Pages 691-705
  2. General Subjects and Profiles

    1. Front Matter
      Pages 707-707
    2. Stephanie Grünewald, James Davison, Diego Martinelli, Marinus Duran, Carlo Dionisi-Vici
      Pages 709-717
    3. Carol L. Greene, Dietrich Matern
      Pages 719-735
    4. Johannes Zschocke, Sigrid Tinschert
      Pages 737-742
    5. K. Michael Gibson, Marinus Duran
      Pages 743-747
    6. Marzia Pasquali, Nicola Longo
      Pages 749-759
    7. Isabel Tavares de Almeida, Marinus Duran
      Pages 761-773
    8. Dietrich Matern
      Pages 775-784
    9. Giancarlo la Marca
      Pages 785-793
    10. Udo Engelke, Angelina Goudswaard, Ron Wevers
      Pages 795-801
    11. Alessandro Burlina, Renzo Manara
      Pages 803-815
    12. Johannes Zschocke
      Pages 817-830
  3. Back Matter
    Pages 831-867

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
  • Buy this book on publisher's site