Lincolnshire, Illinois June 24-26

For those of you who were unable to attend the 15th MSUD Family Support Group Symposium, and for those of you who welcome a reminder, here is a brief synopsis of the lectures and events:

Loren Pina, MD, PhD is a geneticist in the Department of Pediatrics at the University of Illinois Medical Center in Chicago. She provided a historical perspective of MSUD, reviewed the biochemical defect involving the decreased activity of the branched-chain ketoacid dehydrogenase complex which results in elevated levels of leucine, isoleucine, and valine and their keto-acids, and outlined symptoms and diagnostic procedures.

Barbara Burton, MD is Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and an attending physician in the Division of Genetics, Birth Defects and Metabolism at Children’s Memorial Hospital in Chicago. Dr. Burton discussed treatment of MSUD, the need to closely monitor diet records and growth of the affected child. Current treatment of metabolic decompensation includes treating the illness or other factor that caused the event, withholding leucine from the diet, and providing adequate calories and other amino acids to promote protein synthesis. This can be accomplished orally, via naso-gastric or gastrostomy tube, or intravenous infusions of glucose, lipids, and BCAA-free TPN. When necessary, hemodialysis can be used to bring down severely elevated leucine levels. Future therapeutic options include new drugs such as biphenyl, hepatocyte transplantation, and gene therapy.

George Mazariegos, MD is the director of Pediatric Transplantation at Children’s Hospital of Pittsburgh. He updated us on the status of liver transplantation for MSUD, noting that while this procedure was historically limited to life-saving situations, it is now considered an option for improving life. Liver transplant provides a metabolic cure for MSUD, allowing the removal of dietary restrictions and near complete protection from decompensation during illness. These benefits must be weighed against the risk of surgery, rejection, immunosuppression and infections

Jeff Masse is a personal chef in Milwaukee, Wisconsin. He provided an entertaining cooking demonstration and allowed participants to taste delicious low protein foods made with all natural ingredients. Highlights included a watermelon gazpacho, minestrone salad, French potato salad, and confetti coleslaw.

John Parker, a motivational speaker, brought his life stories to the group.

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

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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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A Child's Life

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