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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.



Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

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NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

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Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

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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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Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

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From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

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MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

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The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

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19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

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Transform

A Child's Life

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