Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University PDF
Preview 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 Joanna R. Helm Editors 123 Nutrition Management of Inherited Metabolic Diseases Laurie E. Bernstein (cid:129) F ran R ohr Joanna R. Helm Editors Nutrition Management of Inherited Metabolic Diseases Lessons from Metabolic University Editors Laurie E. Bernstein Joanna R. Helm Clinical Genetics and Metabolism Clinical Genetics and Metabolism Children’s Hospital Colorado University of Colorado Denver University of Colorado Children’s Hospital Colorado Denver – Anschutz Medical Campus Aurora , CO Aurora , CO USA 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 (eBook) DOI 10.1007/978-3-319-14621-8 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, specifi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfi lms 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 specifi c 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) Pref ace 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/nutrition- ists, 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. E ach chapter in the book refl ects 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 inter- vention strategies are rare. In addition, each disorder has a wide spectrum of disease severity. Recognizing that there are variations in practice, the precept of MU is that nutrition management of IMD is not a “cookbook.” Rather, the key to management lies in 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 goals of nutrition therapy are to correct the metabolic imbalance to lower the risk of morbidity and mortality associated with the disorder and to promote normal growth and development by providing ade- quate nutrition. Readers are encouraged to confer with their clinical teams with regard to management protocols specifi c to their institutions and to rec- ognize that management of metabolic diseases is complex and guidance pro- vided in the book may not apply to every clinical situation. This book contains only subject matter covered at MU, and the chapters are authored by the experts who presented the material. Therefore, it is not a com- prehensive treatise on IMD but rather a textbook on the most frequently encoun- tered challenges in IMD nutrition. The book contains introductory chapters on nutrition and metabolism principles common to many metabolic disorders and disease-specifi c chapters on disorders of amino acid, fat, and carbohydrate metabolism. Appendix M contains an overview of nutrition management of IMD including those disorders for which there is not a specifi c chapter. F eedback from MU participants in a published report regarding the effi - cacy and effectiveness of MU confi rmed that they attended MU primarily to v vi Preface obtain practical guidance on nutrition management for their IEM patients. Therefore, each nutrition chapter in the book highlights principles of nutri- tion management, how to initiate a diet, and biomarkers to monitor the diet. Diet calculations are another element of MU that appears at the end of each chapter. For some disorders, there is an online interactive tool that guides the reader through the steps of diet calculations. T he book is designed for day-to-day clinical use. We hope it helps you in your nutrition management of your patients with inborn errors of metabolism. Aurora, CO, USA Laurie E. Bernstein Boston, MA, USA Fran Rohr Aurora, CO, USA Joanna R. Helm Acknowledgments We would like to thank the following people and organizations for their help in envisioning this book or assisting with its production: • Harley A. Rotbart, MD, Professor of Pediatrics and Microbiology, Vice Chair of Academic Affairs in the Department of Pediatrics (retired 2014), and Stephen R. Daniels, MD, PhD Professor of Pediatric Chairman, Department of Pediatrics at the University of Colorado Denver • B ioMarin Pharmaceutical, Inc., Nutricia North America and Hyperion Therapeutics for fi nancial support of Metabolic University • B ioMarin Pharmaceutical, Inc. and Nutricia North America for fi nancial support of Associate Professor Laurie Bernstein’s sabbatical • Medical Reviewers: Peter Baker, MD; Janet Thomas, MD; and Johan Van Hove, PhD, MD, MBA • Metabolic University faculty who contributed their time and expertise to author the chapters for this book We thank those who inspire and teach us: • Phyllis Acosta, DrPH, RD for her lifelong contributions to this fi eld and to her mentorship • O ur colleagues in Metabolism at Boston Children’s Hospital and Univer- sity of Colorado/Colorado Children’s Hospital • Metabolic University participants • Our patients vii Contents Part I Background 1 Introduction to Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Cynthia Freehauf 2 Expanded Newborn Screening for Inherited Metabolic Diseases. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 Erica L. Wright 3 Nutrition Education. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25 Laurie E. Bernstein and Joanna R. Helm 4 Pathophysiology of Inherited Metabolic Disease . . . . . . . . . . . 35 Peter R. Baker II 5 Metabolic Intoxication Syndrome in a Newborn . . . . . . . . . . . 47 Maria Giżewska 6 Anabolism: Practical Strategies . . . . . . . . . . . . . . . . . . . . . . . . . 59 Johan L. K. Van Hove 7 Protein Requirements in Inherited Metabolic Diseases. . . . . . 63 Steven Yannicelli 8 Laboratory Evaluations in Inherited Metabolic Diseases . . . . 75 Curtis R. Coughlin II Part II Aminoacidopathies 9 Phenylketonuria: Phenylalanine Neurotoxicity . . . . . . . . . . . . 89 Maria Giżewska 10 Phenylketonuria: The Diet Basics . . . . . . . . . . . . . . . . . . . . . . . 101 Sandy van Calcar 11 Understanding Large Neutral Amino Acids and the Blood-Brain Barrier. . . . . . . . . . . . . . . . . . . . . . . . . . . . 117 Steven Yannicelli 12 Tetrahydrobiopterin Therapy for Phenylketonuria. . . . . . . . . 127 Elaina Jurecki ix
The list of books you might like
