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Maple syrup urine disease

Definition:

Maple syrup urine disease (MSUD) is a metabolism disorder passed down through families in which the body cannot break down certain parts of proteins. Urine in persons with this condition smells like maple syrup.

Alternative Names:

MSUD

Causes, incidence, and risk factors:

Maple syrup urine disease (MSUD) is caused by a gene defect. Persons with this condition cannot break down the branched-chain amino acids leucine, isoleucine, and valine. This leads to a build-up of these chemicals in the blood.

In the most severe form, MSUD can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time).

MSUD also occurs in an intermittent form and a mild form. Even in the mildest form, infections can cause mental retardation and high levels of leucine.

Review Date: 5/2/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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