Nutrition Management of Inherited Metabolic Diseases by Laurie E. Bernstein
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Nutrition Management of Inherited Metabolic Diseases

Nutrition Management of Inherited Metabolic Diseases


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About the 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.



About the Author: Laurie E. Bernstein, MS, RD, FADA, FAND, is a Professor in the Department of Pediatrics, and Director of the IMD Nutrition Clinic, Section of Clinical Genetics and Metabolism at the University of Colorado School of Medicine, Denver; and Children's Hospital Colorado in Aurora, Colorado. Ms. Bernstein received her undergraduate degree in Clinical Dietetics from State University of New York, Buffalo. She received her master's degree in Administrative and Clinical Dietetics from New York University in New York. A Fellow of the American Dietetic Association and a Fellow of The Academy of Nutrition and Dietetics, Ms. Bernstein is also a five-time recipient of the ADA's Creative Nutrition Education Award (1997, 2001, 2005, 2008, and 2013) for her extensive contributions. She was presented the Children's Choice Award for Innovation in 2000, and the Health and Science Communication Association's Silver Award in 2004. Prof. Bernstein also has a patent for low-protein bacon which is now distributed by Taste Connections. She is a co-founder of Metabolic University, a training forum for registered dietitians, nurses, genetic counselors, and medical doctors and a founding member of Genetic Metabolic Dietitians International (GMDI). She is the co-author of Nutrition Management of Inherited Metabolic Diseases, Penny the Penguin Has PKU (English, Spanish and Norwegian), Setting Up Your Low Protein Kitchen, Max the Monkey has MCADD, Stepping Up Your Protein Intake and many educational modules for families with inborn errors of metabolism.
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).


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Product Details
  • ISBN-13: 9783030945091
  • Publisher: Springer Nature Switzerland AG
  • Binding: Paperback
  • Language: English
  • Returnable: Y
  • Sub Title: Lessons from Metabolic University
  • Width: 178 mm
  • ISBN-10: 303094509X
  • Publisher Date: 16 Jun 2022
  • Height: 254 mm
  • No of Pages: 428
  • Spine Width: 17 mm
  • Weight: 924 gr


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