Nutrition Management of Inherited Metabolic Diseases

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.- NutritionManagement 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.