MSUD treatment has come a very long way.  With earlier diagnosis, the availability of medical formulas and better treatment during metabolic crises, more people with MSUD are able to keep leucine levels under adequate control and live mostly independent and satisfying lives.

As discussed in this newsletter, researchers have turned their attention to the neuropsychological effects of MSUD.  Just how does this disease affect the brain?  How do we help schools identify the services our children need to ensure their success?  Will transplant reverse deficits in executive functioning?

Paula McLaughlin and colleagues recently published a case study describing the results of neuropsychological testing in a 26 year old woman 2 years after she had a liver transplant.  In addition to MSUD, she had been diagnosed with ADHD, anxiety, and depression in childhood.  The authors noted that the seizures and hallucinations she was prone to pre-transplant had stopped, but she continued to struggle with planning, time management, and attention, all aspects of executive functioning.  Abstract reasoning, impulse control and problem-solving remained areas of difficulty for her.  While speech, coordination, reading and driving were improved, anxiety and depression were heightened and she was receiving ongoing treatment.

As we learn more about the brain and how it is affected by MSUD, researchers are hopeful that effective treatments will be incorporated into early childhood care.

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.

Read More

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.

Read More

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.

Read More

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.

Read More

Emory Metabolic Camp 2018 Announcement

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

Read More

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.

Read More

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.

Read More

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

Read More

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.

Read More


A Child's Life

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates