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.

I want to help out, but I don’t know how

Have you ever wanted to help out the MSUD Family Support Group but were unsure about how to contribute? The MSUD Family Support Group is actively looking for volunteers to assist with advocacy and fundraising efforts.

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In The Professional Journals

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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Cambrooke Foods Hosts Local Event

Cambrooke has been doing cooking demonstrations, social meet ups and educational events for patients, their families and the clinician’s that support them for many years.

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MSUD Awareness Day

Now more than ever before we are hearing about National Awareness Days which are set by organizations or the government to bring attention to issues of importance.

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In the 2016 survey of the membership of the MSUD Family Support Group, research for improved treatments and potential cure was rated “most important” by 90% of the responding members.

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A Child's Life

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