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Any common illness or infection can cause elevations in the BCAAs which may precipitate an episode of vomiting, diarrhea, irritability, sleepiness, unusual breathing, staggering, hallucinations, and slurred speech. Left untreated, the child can go into a coma and die. Thus, any signs of illness require initiation of a sick day plan and immediate contact with a health care provider to begin treatment for the illness.

The sick day plan is designed to keep a child out of the hospital. The main focus of the sick day regimen is to provide adequate calories and amino acids to meet the body's needs and to use up the excess BCAAs in the blood by promoting protein synthesis. Usually the "sick day diet" decreases leucine intake and increases the amount of formula the child is prescribed. Blood may be taken more frequently at these times to check amino acid levels.

If the child cannot tolerate feedings during illness, hospitalization may be necessary to provide the calories and desired amino acids through a specially prepared IV solution (see under Treatment ). These solutions do not contain any BCAAs. Additional calories may be provided by adding lipid (fat) and/or glucose to the IV mixture. Frequent assessments of the child's clinical status and blood levels are essential.

Cerebral edema is a major concern in managing MSUD. Cerebral edema is the accumulation of excess fluid on the brain caused by an imbalance between electrolytes and the amino acids. This pool of fluid puts pressure on the brain and affects its function, which can interfere with breathing and can cause death. The fluid can be seen on CT and MRI scans of the brain. Cerebral edema can be treated successfully by physicians familiar with the latest in the treatment 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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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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