© 2015

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

    1. Front Matter
      Pages 185-185

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

About the editors

Laurie E. Bernstein, MS, RD, FADA, FAND  is Associate Professor in the School of Medicine – Department of Pediatrics at the University of Colorado and Children’s Hospital Colorado, Aurora, CO, where she has been Director of the Inherited Metabolic Disease Nutrition Clinic since 2006. Professor Bernstein co-founded and serves on the faculty of Metabolic University. She is a Founder of Genetic Metabolic Dietitians International (GMDI) and Network PKU and a member of the Academy of Nutrition and Dietetics, Pediatric Nutrition Practice Group, the Society for Inherited Metabolic Disorders (SIMD) and SSIEM.  She is the recipient of five Creative Nutrition Education Awards. She is the co-author of peer-reviewed journals, books and teaching modules for families.

Frances Rohr, MS, RD, LDN, is a Clinical Nutrition Specialist at Boston Children's Hospital who has been involved in the nutritional care of individuals with inherited metabolic disorders for 30 years. She has been an investigator on several clinical research studies and is a Founder and Past President of Genetic Metabolic Dietitians International (GMDI). She is co-investigator in the Southeast Regional Genetics Collaborative/GMDI Nutrition Guideline Development Project. She is a member of the Academy of Nutrition and Dietetics, the Pediatric Nutrition Practice Group and the Society for Inherited Metabolic Disorders (SIMD) and serves on the faculty of Metabolic University.

Joanna R. Helm, MS, RD, graduated from Oregon Health and Science University with her masters in Clinical Nutrition. She is the co-author of “Penny the Penguin has PKU” and completed research addressing the impact of exercise on plasma phenylalanine concentrations in adolescent boys with phenylketonuria. She is also a member of the Genetic Metabolic Dietitians International (GMDI), the Society for Inherited Metabolic Disorders (SSIEM) and The Academy of Nutrition and Dietetics (AND) and Pediatric Nutrition Practice Group.

Bibliographic information

  • Book Title Nutrition Management of Inherited Metabolic Diseases
  • Book Subtitle Lessons from Metabolic University
  • Editors Laurie E. Bernstein
    Fran Rohr
    Joanna R. Helm
  • DOI
  • Copyright Information Springer International Publishing Switzerland 2015
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-319-14620-1
  • eBook ISBN 978-3-319-14621-8
  • Edition Number 1
  • Number of Pages XIV, 377
  • Number of Illustrations 23 b/w illustrations, 69 illustrations in colour
  • Topics Metabolic Diseases
  • Buy this book on publisher's site


“This book on IMDs has been written primarily for doctors, dietitians, geneticists, nurses, nutritionists, and other specialists involved in caring for patients with inherited metabolic diseases (IMDs) or studying them. … This wonderful book takes close looks at the causes of many abnormalities, diseases and disorders humans inherit that are associated with metabolism. … . It is a rare, unique, important, and valuable work for which its 14 authors and three editors are hereby congratulated and commended.” (Hiro Motiram, Biz India Online News,, November, 2015)