maple syrup urine disease (redirected from Maple syrup urinedisease)

ma·ple syr·up urine disease (mpl srp, sûr-)

n.

A hereditary metabolic disorder due to a deficiency of decarboxylase enzyme that leads to elevated concentrations of leucine, isoleucine, and valine in the blood and urine, characterized by the urine having an odor similar to that of maple syrup, severe mental retardation, and seizures. Also called branched chain ketoaciduria.

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maple syrup urine disease

an inherited disease of polled Hereford cattle and humans, in which there is a deficient decarboxylation of branched-chain a-ketoacids derived from several amino acids. It is marked clinically by mental and physical retardation, feeding difficulties and a characteristic odor of the urine resembling burnt sugar.