Nutrition Management of Inherited Metabolic Diseases

Lessons from Metabolic University

  • Laurie E. Bernstein
  • Fran Rohr
  • Joanna R. Helm

Table of contents

  1. Front Matter
    Pages i-xiv
  2. Background

    1. Front Matter
      Pages 1-1
    2. Cynthia Freehauf
      Pages 3-14
    3. Laurie E. Bernstein, Joanna R. Helm
      Pages 25-33
    4. Peter R. Baker II
      Pages 35-45
    5. Maria Giżewska
      Pages 47-57
    6. Johan L. K. Van Hove
      Pages 59-62
    7. Curtis R. Coughlin II
      Pages 75-85
  3. Aminoacidopathies

    1. Front Matter
      Pages 87-87
    2. Maria Giżewska
      Pages 89-99
    3. Sandy van Calcar
      Pages 101-116
    4. Fran Rohr
      Pages 139-147
    5. Janet A. Thomas
      Pages 149-158
    6. Sandy van Calcar
      Pages 173-183
  4. Organic Acidemias

  5. Fatty Acid Oxidation Disorders

    1. Front Matter
      Pages 239-239
    2. Johan L. K. Van Hove
      Pages 241-254
  6. Disorders of Carbohydrate Metabolism

    1. Front Matter
      Pages 283-283
    2. Laurie E. Bernstein, Sandy van Calcar
      Pages 285-293
    3. Johan L. K. Van Hove
      Pages 295-305
  7. Back Matter
    Pages 319-377

About this book


This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia, and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.


Biochemical testing and monitoring Dietary treatment Fatty acid oxidation disorders Inborn errors of metabolism Nutrition management Phenylketonuria

Editors and affiliations

  • Laurie E. Bernstein
    • 1
  • Fran Rohr
    • 2
  • Joanna R. Helm
    • 3
  1. 1.Clinical Genetics and MetabolismChildren’s Hospital Colorado, University of Colorado Denver – Anschutz Medical CampusAuroraUSA
  2. 2.Division of Genetics and GenomicsBoston Children’s HospitalBostonUSA
  3. 3.Clinical Genetics and MetabolismUniversity of Colorado Denver, Children’s Hospital ColoradoAuroraUSA

Bibliographic information

  • DOI
  • Copyright Information Springer International Publishing Switzerland 2015
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-14620-1
  • Online ISBN 978-3-319-14621-8
  • Buy this book on publisher's site