MSUD Nutrition Management Guidelines
First Edition
February 2013, v.1.50
Current version: v.1.58
Updated: August 2016
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Some educational resources and tools are currently available to support nutrition management of MSUD. Development of additional resources specific to these guidelines is planned. A grant has been submitted by GMDI for funding the costs of developing a toolkit to accompany the guidelines.

Learning Objectives for Patients/Families
  • Understand the basic defect of BCAA catabolism in MSUD
  • Recognize the need to monitor clinical and biochemical signs of poor dietary control and metabolic decompensation
  • Understand appropriate treatment during illness
  • Recognize the need for frequent contact with the appropriate healthcare providers (metabolic dietitian, nurse, physician, etc)
  • Acquire skills needed to implement the dietary prescription
  • Realize the importance of strict adherence to the dietary prescription
  • Recognize the role of medical food in the dietary management
Resources for patients


($ = indicates available for purchase)


Resources for patients and families


Advocacy and support groups

  • CLIMB (Children Living with Inherited Metabolic Disorders): the United Kingdom's provider of free metabolic disease information to young people, adults, families, professionals and other interested groups. Their mission is to provide Metabolic Disease specific information, advice and support to children, young people, adults, families and professionals in the United Kingdom and to provide information and support to families worldwide, to fund educational and primary research programs and to investigate treatments and medical services.

  • Genetic Alliance: A non-profit health advocacy organization. Genetic Alliance’s network includes more than 1,000 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations. The network is a dynamic and growing open space for shared resources, creative tools, and innovative programs.

  • MSUD Family Support Group: A non-profit 501(c)(3) organization dedicated to support, education and advocacy for persons with MSUD.  Offers online resources for families and professionals, a newsletter, and educational symposiums.  It has a scientific advisory board. Past newsletters are available and indexed by topic.

  • National Organization for Rare Disorders (NORD): a unique non-profit federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

  • National PKU Alliance: a non-profit representing a collaboration of phenyketonuria (PKU) community members joining together as a national voice and supporting local efforts to raise PKU awareness and driving advocacy and education, while ultimately looking for a cure. Many advocacy issues surrounding coverage for medical food and other treatment modalities are as applicable to MSUD as to PKU.


Reference guides and fact sheets

  • A Guide for the Family of a Child with Maple Syrup Urine Disease (2009):  a guide in English and Spanish, providing a clear definition of the disorder and treatment, appropriate for the family with a newly diagnosed infant.  Available to health care professionals and to families from Abbott Nutrition, a division of Abbott Laboratories, Inc., PO Box 1317, Columbus, OH 43216, 1-800-986-8755 FREE.
  • Genetic Home References: provides a brief overview of this disorder and genetic inheritance, with a comprehensive list of links to many other resources

  • Next Steps After Diagnosis: Maple Syrup Urine Disease (MSUD): a set of questions and answers that briefly describes the inheritance, symptoms, treatment and other aspects of the disorder. Available in both English (2011) and Spanish (2009). Developed by the Minnesota Department of Health.

  • Parents’ Guide to MSUD (2005): a printer-friendly booklet on MSUD, available as a PDF for downloading, prepared by the California Department of Health Services Newborn Screening Program.

  • STAR-G Genetic Fact Sheets for MSUD (in English and Spanish): concise, but accurate fact sheets that are in a downloadable format.


Nutrition and diet information

  • Apples to Zucchini: A Collection of Favorite Low Protein Recipes (2005) by Virginia Schuett and Dorothy Corry: This book includes more than 500 recipes for low-protein diets, with special emphasis on fresh fruits and vegetables and recipes suitable for the entire family. Very few recipes include special low-protein ingredients. The focus is on a diversity of healthy foods and easily obtainable ingredients. Leucine and protein content is listed for each recipe. $

  • Bowes and Church’s Food Values of Portions Commonly Used, Nineteenth Edition (2009):  This book lists more than 6,300 common foods with their protein and nutrient content, organized by food groups.  $

  • Food List for Maple Syrup Urine Disease (2008): This booklet lists leucine, isoleucine, valine and protein content of portions of common foods by weight and household measurements. Includes management tips for the MSUD diet. Available free of charge upon request from Abbott Nutrition, a division of Abbott Laboratories, Inc., PO Box 1317, Columbus, OH 43216, 1-800-986-8755 FREE.
  • Homestyle Cooking: Recipes the Whole Family Will Enjoy (2011):  low-protein recipes with leucine and protein content included.  Published by Applied Nutrition Corp., 10 Saddle Road, Cedar Knolls, NJ 07927 in cooperation with Clinic for Special Children, Strasburg, PA. $

  • Low Protein Cookery for Phenylketonuria, Third Edition (1997), by Virginia E. Schuett, University of Wisconsin Press: a recipe book appropriate for low protein cooking.  All recipes contain information about the protein content per recipe and per serving. There are also tips for managing a low protein diet. $   

  • Low Protein Food List for PKU, Third Edition (2010), by Virginia E. Schuett:  information on protein content of more than 6,000 foods based on serving portions, both in common measures and gram weights, in an easily searchable format.  Available in printed and electronic versions. $


Resources for providers



($ = indicates available for purchase)

Resources for Providers

  • American College of Medical Genetics (ACMG) ACT SHEET and algorithm for MSUD: information to guide providers through confirmatory testing following an abnormal newborn screen for MSUD. and

  • GeneReviews: a collection of expert-authored, peer-reviewed disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.  Developed under the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH).

  • Metabolic Pro: nutrient analysis software that includes amino acid data for foods and beverages, including medical foods and foods specially modified to be low in protein.  Developed with educational grants from Nutricia North America and BioMarin. Available from Genetic Metabolic Dietitians International.  $

  • Nutrition Management of Patients with Inherited Metabolic Disorders (2010), edited by Phyllis Acosta:  the first reference textbook on nutrition management of metabolic disorders.  The chapter on branched-chain amino acid metabolism begins with a section on maple syrup urine disease including pathophysiology, method of diagnosis, outcomes if untreated, reasons for and recommended amounts of specific nutrients, how to plan and effectively manage nutrition care, how to monitor nutrition status, problems occurring in managing nutrition, resources, and outcomes of nutrition management.   $

  • Ross Metabolic Formula System Nutrition Support Protocols, Fourth Edition (2001), by Phyllis Acosta and Steven Yannicelli, available upon request to healthcare professionals from Abbott Laboratories, Inc., PO Box 1317, Columbus, OH 43216, 1-800-986-8755 FREE.  This book includes protocols for managing nutrition support of inborn errors of metabolism with an emphasis on practical aspects. Nutrition management of Maple Syrup Urine Disease is outlined in Protocol 5.
  • Screening, Technology And Research in Genetics (STAR-G) Project: a multi-state collaborative effort, led by the Hawai`i Department of Health, to obtain research data, identify strategies and develop materials for addressing the financial, ethical, legal and social issues (FELSI) surrounding the use of tandem mass spectrometry (MS/MS) for neonatal metabolic screening of culturally and ethnically diverse populations, funded by the Health Resources and Services Administration (HRSA) through a Special Projects of Regional and National Significance (SPRANS) grant.  The STAR-G website includes general information on newborn screening, genetics and fact sheets on metabolic disorders, including MSUD.