Nutrition Management of Inherited Metabolic Diseases Lessons from Metabolic University /

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 disea...

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Bibliographic Details
Published in:Springer eBooks
Corporate Author: SpringerLink (Online service)
Other Authors: Bernstein, Laurie E. (Editor), Rohr, Fran (Editor), Helm, Joanna R. (Editor)
Format: eBook
Language:English
Published: Cham : Springer International Publishing : Imprint: Springer, 2015.
Subjects:
Online Access:http://dx.doi.org/10.1007/978-3-319-14621-8
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Table of Contents:
  • 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.