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MSUD is a recessive genetic disease. This means both parents of a child with MSUD must carry a mutation in the same gene (the same genetic code). These mutated genes do not function normally, thus causing disease. A person with a gene mutation is called a carrier. Carriers are not affected by their one abnormal gene. (Just as everyone carries genetic codes for things like the color of hair and eyes, everyone also carries several abnormal genes which can cause disease.)

Each individual person has two genes that code for the enzyme activity involved in the breakdown of the BCAAs-one gene coming from the father and one from the mother. If one gene functions normally, but the other does not, then the person is a carrier of MSUD. If neither gene functions normally, then that person has MSUD. It is also possible to receive the normal gene from each parent and not have any mutated genes for the disease.

When parents are both carriers of the gene for MSUD, with each pregnancy, there is a 1 in 4 chance of having a baby with MSUD, a 2 in 4 chance that the baby will have only one gene for MSUD and be a carrier like the parents, and a 1 in 4 chance that the baby will neither be a carrier nor have 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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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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