Ideally each infant should be tested for MSUD on the day after birth with results reported within 24 hours. The earlier these children are diagnosed and treated, the less risk of permanent damage. In the United States, all states screen newborns for MSUD through the State's newborn screening program. In countries that do not include MSUD in their screening programs, children with MSUD can become severely handicapped or die before they are diagnosed. Early diagnosis is of paramount importance if the child with MSUD is to develop normally. This should be the goal of all testing for MSUD.

Some variant types of MSUD may be missed with screening programs. Any child at risk or suspected of having MSUD should be tested. If the result is positive, or suspected to be positive, treatment should be started immediately.


In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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From The Editor

Hello to my MSUD family! The power of this family hit home this summer, when Hannah (Classic MSUD age 23 years) and I visited Israel.

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NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

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As our legislators headed home for their August break, Rare Disease Legislative Advocates got busy.

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Sweet Odyssey

Artur Santos was born on January 18, 2002, the second son of Soraya and Idario Santos. They never imagined how their lives were about change as the second baby arrived.

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A Child's Life

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