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.
What causes maple syrup urine disease?
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.