As reported in our Winter 2010 issue, Dr. Brendan Lee has been applying lessons learned treating urea cycle patients to those with MSUD.

It has been observed that levels of the branched-chain amino acids and their keto acids are lowered in patients treated with phenylbutyrate. This treatment was tested in 5 patients with mild presentations of MSUD. Results were variable, but some effect was observed. Given this encouraging news, Dr. Lee hopes to conduct a clinical trial in which patients with classic and intermittent MSUD will be treated with either phenylbutyrate or placebo in a crossover design (each subject will receive each treatment). This will be a 4 week study with a 2 week washout period (neither drug nor placebo) in between the trials.

Dr. Lee notes that phenylbutyrate is already FDA approved. If it is found to be effective in increasing tolerance to protein and/or preventing or mediating metabolic decompensations, approval for use would involve a label application which takes about 90 days.

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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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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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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Galen Carrington Classic MSUD age 27

Galen Carrington is a 27 year old Indiana resident who has classic MSUD. He underwent liver transplantation 5 years ago at Children’s Hospital

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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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Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

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A Child's Life

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