MSUD is a rare disease, affecting an estimated 1 in 185,000 infants worldwide. The condition gets its name from the distinctive sweet odor of urine and earwax in affected infants. If untreated, MSUD can lead to developmental delays, seizures, coma, and death.
A strict diet and careful medical monitoring is essential throughout the lifespan. Foods that have high protein content (most meats, dairy and fish products) must be avoided.
Treatment of children with MSUD centers around a carefully controlled diet, the mainstay of which is a “medical food” or formula. Natural foods focus on fruits, and many vegetables.
Food that are rich in protein, such as meats, dairy products, and fish are highly restricted.
The MSUD Family Support Group is a non-profit volunteer-run organization serving families and professionals worldwide. We unite the MSUD families, medical clinicians, and researchers into a community seeking to improve the lives of individuals with MSUD through day-to-day support, improved treatments, and the search for a potential cure for MSUD.
We provide opportunities for support and personal contact for those with MSUD, their families, and professionals.
We strive to improve the lives of those with MSUD by promoting and supporting research that may lead to better treatments and a cure for MSUD.
We improve the lives of those with MSUD by supporting enactment of public policies to further research and improve access to care for individuals with MSUD.
