Cerebral edema (swelling of the brain) commonly occurs when a person with MSUD is in metabolic crisis. As cerebral edema has the potential to cause brain damage, prevention and effective treatment of cerebral edema is a major focus of clinicians. The precise mechanism by which high levels of leucine damage the brain are not known. This study used rats to look at the effect of branched-chain amino acids (BCAAs) on the brain, and examined the effect of dexamethasone, a steroid drug which has been found effective in treating cerebral edema resulting from brain tumors and other causes.

The authors demonstrated that elevated BCAA levels increase the permeability of the brain, allowing greater amounts of fluid and small molecules to enter. They also found that when rats were given dexamethasone, permeability of the brain, brain swelling and brain damage was reduced.

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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Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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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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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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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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A Child's Life

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