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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 Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

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Fundraising

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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MSUD Advocacy Update

Healthcare and issues facing the rare disease community have been at the forefront of national conversations over the past 6 months.

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My Trip To Israel

I met Avi, Dikla, and Tamar Starr last year at the MSUD Symposium in Raleigh, NC. Tamar, classic MSUD, was 2 ½ at the time, and they invited me to come to Israel and stay with them for a year.

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Transform

A Child's Life

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