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.

NBS-MSUD Connect: Advancing MSUD Research And More


Rare disease registries have received attention in recent years because of the many ways in which they can benefit the rare disease community.

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Indigo Charlie Mays - Variant MSUD Age 4

Meet our girl Indigo Charlie Mays. After a smooth pregnancy and delivery, she was born on July 21st, 2013 in Seattle, WA.

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Metformin As A Possible Therapeutic Agent In The Treatment Of MSUD

The MSUD Family Support Group has provided funds to Buck Institute for its preliminary studies investigating metformin

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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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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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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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A Child's Life

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