Overview
Fully updated and expanded second edition
Offers guidance on current nutrition treatment of a wide range of inherited metabolic diseases
Designed to ensure ease of reference for clinicians
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Table of contents (26 chapters)
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Front Matter
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Background
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Front Matter
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Aminoacidopathies
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Front Matter
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Keywords
About this book
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.
Editors and Affiliations
About the editors
Fran Rohr, MS, RD, LDN, is a partner with Met Ed Co, a non-profit organization dedicated to education of metabolic dietitians. Formerly, she was a clinical nutritionist at Boston Children’s Hospital, where she worked with patients with inherited metabolic disorders for 38 years. Fran is a Founder and a Past President of Genetic Metabolic Dietitians International (GMDI). She is Co-principal Investigator of the GMDI/Southeast Regional Newborn Screening Network (SERN) Nutrition Guideline Development Project. She has been involved in several research studies on phenylketonuria (PKU) and maternal PKU
Sandy van Calcar: Sandy is an Associate Professor in the Department of Molecular and Medical Genetics and the Graduate Programs in Human Nutrition at Oregon Health & Science University in Portland, Oregon. Sandy has worked in the field of metabolic nutrition for over 30 years and has both clinical and research experience. She is a founding member and Past-President of Genetic Metabolic Dietitians International (GMDI).
Bibliographic Information
Book Title: Nutrition Management of Inherited Metabolic Diseases
Book Subtitle: Lessons from Metabolic University
Editors: Laurie E. Bernstein, Fran Rohr, Sandy van Calcar
DOI: https://doi.org/10.1007/978-3-030-94510-7
Publisher: Springer Cham
eBook Packages: Medicine, Medicine (R0)
Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022
Softcover ISBN: 978-3-030-94509-1Published: 16 June 2022
eBook ISBN: 978-3-030-94510-7Published: 14 June 2022
Edition Number: 2
Number of Pages: XIV, 428
Number of Illustrations: 21 b/w illustrations, 86 illustrations in colour
Topics: Metabolic Diseases, Food Science, Nursing, Nutrition