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Maple Syrup Urine Disease (MSUD) is a disorder in the body's ability to use three of the essential amino acids in protein. These three essential amino acids-leucine, isoleucine and valine-are often called the branched-chain amino acids (BCAAs).

Protein in the body is made up of 20 amino acids; eleven of these are essential, and nine are nonessential. The essential amino acids must be supplied in the daily diet. The nonessential amino acids can be obtained from the diet or produced in the body from other amino acids.

In MSUD, the enzymes necessary to break down leucine, isoleucine and valine are either absent, inactive, or only partially active. Because of the enzyme deficiency in MSUD, the BCAAs and their byproducts (called ketoacids) become elevated. It is these elevations that cause an infant or child with MSUD to become symptomatic.


MSUD is a serious disorder with life-threatening consequences unless addressed promptly. However, MSUD is manageable, just as diabetes is manageable. Careful monitoring and adherence to dietary restrictions are essential. Even minor illnesses and infections must be taken seriously and require special care. Treatment for MSUD has improved greatly over the past few years. It is of utmost importance that all children who have MSUD receive the benefit of the most up-to-date treatment.

Related Links

Related linksFollow MSUD related links for more information about specific topics. These include information on diet, nutritions, medical foods, associations, organizations and research.

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Make a donation

DonationThe MSUD Family Support Group is a 501(c)(3) non-profit organization with no paid staff. Funds are needed for genetics research, diet, related behaviors and on-going studies for improved treatment.

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Physician Network

Physician networkHelp introduce your primary professionals. Currently we are in need of contacts for the following locations: India, United Kingdom, Australia, USA (Midwest), South America.

See the Physician Directory

MSUD Forum

Have a sayOpen to members only, the official MSUD forum is the place for sharing knowledge and asking questions. We encourage members to use this resource for better management of MSUD.

Visit the Forum

MSUD Events

Current eventsGet up, get out. Find local events in your town or across the world. Find something fun, informative, and healthy to enjoy. Browse the listings, or post an event in your location.

See current Events

Diet Wise

Low Protein FoodsBrowse the various recipes for low-protein foods and information. You can also submit your own receipe to share with our MSUD community.

See the Recipes

© 2016 MSUD Family Support Group

The information presented on this web site is for educational purposes. It does not replace medical consultation. The MSUD (Maple Syrup Urine Disease) Family Support Group is not liable for the application of this information or any errors therein.

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