Nutrition Management of Inherited Metabolic Diseases Lessons from Me
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 disord
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Nutrition Management of Inherited Metabolic Diseases
Laurie E. Bernstein • Fran Rohr Joanna R. Helm Editors
Nutrition Management of Inherited Metabolic Diseases Lessons from Metabolic University
Editors Laurie E. Bernstein Clinical Genetics and Metabolism Children’s Hospital Colorado University of Colorado Denver – Anschutz Medical Campus Aurora, CO USA
Joanna R. Helm Clinical Genetics and Metabolism University of Colorado Denver Children’s Hospital Colorado Aurora, CO USA
Fran Rohr Division of Genetics and Genomics Boston Children’s Hospital Boston, MA USA
ISBN 978-3-319-14620-1 ISBN 978-3-319-14621-8 DOI 10.1007/978-3-319-14621-8
(eBook)
Library of Congress Control Number: 2015938768 Springer Cham Heidelberg New York Dordrecht London © Springer International Publishing Switzerland 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer International Publishing AG Switzerland is part of Springer Science+Business Media (www.springer.com)
Preface
Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University is dedicated to the nutrition management of patients with inherited metabolic diseases (IMD). It presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 350 metabolic dietitians/nutritionists, physicians, genetic counselors, and nurses since 2006. The purpose of MU, and thus the subject matter included within, is intended to assist the entry-level clinician with a broad understanding of the nutrition management of inherited metabolic diseases. Each chapter in the book reflects both the author’s literature review and insights from his or her clinical experience. For many disorders, there is no consensus in the literature regarding the nutritional management, likely because the incidence of IMD is low and randomized clinical trials on intervention strategies are rare. In addition, each disorder has a wid
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