Maple syrup urine disease
Alternate Names : MSUD
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 can smell like maple syrup.
Overview, Causes, & 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 buildup 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, repeated periods of physical stress can cause mental retardation and high levels of leucine.
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