Nutrition management of inherited metabolic diseases : lessons from Metabolic University / Laurie E. Bernstein, Fran Rohr, Sandy van Calcar, editors.
Bernstein, Laurie E.; Rohr, Fran.; Calcar, Sandy van.
2022
RC627.8
Available Online

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Title Nutrition management of inherited metabolic diseases : lessons from Metabolic University / Laurie E. Bernstein, Fran Rohr, Sandy van Calcar, editors.
Edition 2nd ed.
ISBN 9783030945107 (electronic bk.)
3030945103 (electronic bk.)
9783030945091 (print)
303094509X
DOI https://doi.org/10.1007/978-3-030-94510-7
Publication Details Cham : Springer, 2022.
Language English
Description 1 online resource (415 pages)
Other Standard Identifiers 10.1007/978-3-030-94510-7 doi
Call Number RC627.8
Dewey Decimal Classification 616.39042
Summary 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 community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and 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 also addressed. In addition, current medical management therapies is included.
Note Includes index.
Access Note Access limited to authorized users.
Source of Description Online resource; title from PDF title page (SpringerLink, viewed June 29, 2022).
Added Author Bernstein, Laurie E.
Rohr, Fran.
Calcar, Sandy van.
Available in Other Form Nutrition Management of Inherited Metabolic Diseases.
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Record Appears in Online Resources > Ebooks
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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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