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The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin , a drug commonly used to treat diabetes, and the impact it may have on the metabolism of branchedchain amino acids (BCAAs) including leucine. They also plan to investigate the use of Triacetoacetin (TAA), a substance which provides molecules which are generated during normal metabolism and which are deficient in individuals with MSUD.

BCAAs play a critical role in the development of muscle tissue. Leucine is a key trigger for muscle protein synthesis and is also used as a fuel source by the muscle, particularly during high intensity exercise. Abnormalities have been observed in the muscle fibers of mice with intermediate MSUD (iMSUD), and have also been observed in critically ill children with classic MSUD.

As an initial step, the researchers have developed the tools they will use to demonstrate an effect of treatment on muscle fiber size and muscle strength. They have been able to observe that iMSUD mice have fewer Type 1 “slow twitch” muscle fibers which are used for endurance types of activity. In contrast, they found increased levels of Type 2 “fast twitch” muscle fibers which rely less on oxygen for their fuel and are used for quick bursts of activity.

But on the whole, the ability of the iMSUD mice to utilize glucose was diminished, suggesting an overall physiological defect in MSUD. They also found that the muscles of iMSUD mice were weaker than those of mice without MSUD. After treatment with metformin, iMSUD mice had lower levels of the keto acid which accumulates when leucine levels are high, but had similar levels of leucine. Very encouragingly, treatment with metformin reversed the loss of Type 1 fibers associated with the iMSUD mice. And in conjunction, metformin also restored muscle strength and glucose physiology of these mice. This suggests a promising therapeutic outcome for metformin in the future. The iMSUD mice are short lived with a survival of about 2-3 weeks. The team is now looking at the effect of metformin injections on the lifespan of iMSUD mice. Finally, as the skeletal muscle of iMSUD mice have insufficient biochemicals used in aerobic metabolism, the team will also test ways of supplementing these biochemicals by treatment with TAA as a precursor drug.

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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