Nutrition Management of Inherited Metabolic Diseases (PDF)

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.

“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, bizindia.net, November, 2015)