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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.








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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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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Adjusting Protein In An Adult With MSUD

A little over a year ago, in January, Jeff was just not himself. He had limited energy, was not eating well, and often appeared slightly agitated.

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NBS-MSUD Connect: Advancing MSUD Research And More

NBSCONNECT.ORG

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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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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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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Transform

A Child's Life

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