Nutrition Management of Inherited Metabolic Diseases (eBook)

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.

Background: Introduction to Genetics.- Expanded Newborn Screening for Inherited Metabolic Diseases.- Nutrition Education.- Pathophysiology of Inherited Metabolic Disease.- Metabolic Intoxication Syndrome in a Newborn.- Anabolism: Practical Strategies.- Protein Requirements in Inherited Metabolic Diseases.- Laboratory Evaluations in Inherited Metabolic Diseases. Aminoacidopathies: Phenyketonuria: Phenylalanine Neurotoxicity.- Phenylketonuria: The Diet Basics.- Understanding Large Neutral Amino Acids and the Blood Brain Barrier.- Tetrahydrobiopterin Therapy in Phenylketonuria.- Maternal Phenylketonuria.- Homocystinuria: Diagnosis and Management.- Nutrition Management of Urea Cycle Disorders.- Nutrition Management of Maple Syrup Urine Disease. Organic Acidemias: Organic Acidemias.- Glutaric Acidemia Type 1: Diagnosis and Management.- Nutrition Management of Glutaric Acidemia Type 1.- Nutrition Management of Propionic Acidemia and Methylmalonic Acidemia.- Nutrition Management during Pregnancy: Maple Syrup Urine Disease, Propionic Acidemia and Urea Cycle Disorders. Fatty Acid Oxidation Disorders: Fatty Acid Oxidation Disorders.- Nutrition Studies in Long Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring.- Nutrition Management of Fatty Acid Oxidation Disorders. Disorders of Carbohydrate Metabolism: Nutrition Management of Galactosemia.- Glycogen Storage Disease.- Nutrition Management of Glycogen Storage Disease Type 1.