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Four general classifications are used to identify the types of MSUD: classic, intermediate, intermittent and thiamine-responsive. These terms refer to the amount and type of enzyme activity present in the affected child, which can vary considerably within each classification.

Classic is the most common type of MSUD. In classic MSUD, little or no enzyme activity (usually less than 2% of normal) is present. Infants with classic MSUD will show symptoms within the first several days of life. They generally have poor tolerance for the BCAAs, so protein must be severely restricted in their diet.

Intermediate MSUD is a variant of the classic type of the disease. Those with intermediate MSUD have a higher level of enzyme activity (approximately 3-8% of normal). They can usually tolerate a greater amount of leucine. However, when ill or fasting, the child with intermediate MSUD reacts just like a child with classic MSUD. Management is similar for the intermediate and classic types of MSUD.

Intermittent MSUD is a milder form of the disease because of the greater enzyme activity present (approximately 8-15% of normal). Often the child does not have symptoms until 12 to 24 months of age, usually in response to an illness or surge in protein intake. During episodes of illness or fasting, the BCAA levels elevate, the characteristic maple syrup (or burnt sugar) odor becomes evident, and the child can go into a metabolic crisis.

Thiamine-responsive MSUD is basically just what the name implies. Giving large doses of thiamine to the thiamine-responsive child will increase the enzyme activity which breaks down leucine, isoleucine and valine. In most cases only moderate protein restriction is needed for this more rare type of MSUD.


















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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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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of MSUD adults and children

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