Nutrition Management of Inherited Metabolic Diseases

lt;b>Laurie E. Bernstein, MS, RD, FADA, FAND, is a Professor in the Department of Pediatrics, and Director of the IMD Nutrition Clinic, Section of Clinical Genetics and Metabolism at the University of Colorado School of Medicine, Denver; and Children's Hospital Colorado in Aurora, Colorado. Ms. Bernstein received her undergraduate degree in Clinical Dietetics from State University of New York, Buffalo. She received her master's degree in Administrative and Clinical Dietetics from New York University in New York. A Fellow of the American Dietetic Association and a Fellow of The Academy of Nutrition and Dietetics, Ms. Bernstein is also a five-time recipient of the ADA's Creative Nutrition Education Award (1997, 2001, 2005, 2008, and 2013) for her extensive contributions. She was presented the Children's Choice Award for Innovation in 2000, and the Health and Science Communication Association's Silver Award in 2004. Prof. Bernstein also has a patent for low-protein bacon which is now distributed by Taste Connections. She is a co-founder of Metabolic University, a training forum for registered dietitians, nurses, genetic counselors, and medical doctors and a founding member of Genetic Metabolic Dietitians International (GMDI). She is the co-author of Nutrition Management of Inherited Metabolic Diseases, Penny the Penguin Has PKU (English, Spanish and Norwegian), Setting Up Your Low Protein Kitchen, Max the Monkey has MCADD, Stepping Up Your Protein Intake and many educational modules for families with inborn errors of metabolism.
Fran Rohr, MS, RD, LDN, is a partner with Met Ed Co, a non-profit organization dedicated to education of metabolic dietitians. Formerly, she was a clinical nutritionist at Boston Children's Hospital, where she worked with patients with inherited metabolic disorders for 38 years. Fran is a Founder and a Past President of Genetic Metabolic Dietitians International (GMDI). She is Co-principal Investigator of the GMDI/Southeast Regional Newborn Screening Network (SERN) Nutrition Guideline Development Project. She has been involved in several research studies on phenylketonuria (PKU) and maternal PKU
Sandy van Calcar: Sandy is an Associate Professor in the Department of Molecular and Medical Genetics and the Graduate Programs in Human Nutrition at Oregon Health & Science University in Portland, Oregon. Sandy has worked in the field of metabolic nutrition for over 30 years and has both clinical and research experience. She is a founding member and Past-President of Genetic Metabolic Dietitians International (GMDI).

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.