Nutrition management of inherited metabolic diseases : lessons from Metabolic University

Nutrition management of inherited metabolic diseases : lessons from Metabolic University / Laurie E. Bernstein, Fran Rohr, Sandy van Calcar, editors.

This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic communi...

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Bibliographic Details
Other Authors: Bernstein, Laurie E., Rohr, Fran, Calcar, Sandy van
Format: eBook
Language:English
Published: Cham : Springer, 2022.
Edition:2nd ed.
Subjects:
Metabolism, Inborn errors of > Patients > Nutrition.
Metabolism, Inborn errors of.
Metabolism > Disorders.
Diet therapy.
metabolism (biological concept)
Metabolism, Inborn errors of
Online Access:Click for online access
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.

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