Bernstein Laurie E., Rohr Fran, Helm Joanna R. (eds.) Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University

Springer, 2015. — 363 p.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.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
Phenylketonuria: Phenylalanine Neurotoxicity
Phenylketonuria: The Diet Basics
Understanding Large Neutral Amino Acids and the Blood-Brain Barrier
Tetrahydrobiopterin Therapy for 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 I: 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, Methylmalonic Acidemia, and Urea Cycle Disorders
Fatty Acid Oxidation Disorders
Fatty Acid Oxidation Defects
Nutrition Studies in Long-Chain Fatty Acid Oxidation Disorders: Diet Composition and Monitoring
Nutrition Management of Fatty Acid Oxidation Disorders
Disorders of Carbohydrate Metabolism
The Diet for Galactosemia
Glycogen Storage Diseases
Nutrition Management of Glycogen Storage Disease Type 1