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maple syrup urine disease

maple syrup urine disease in Medicine

maple syrup urine disease ma·ple syr·up urine disease (mā'pəl sĭr'əp, sûr'-)
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.

The American Heritage® Stedman's Medical Dictionary
Copyright © 2002, 2001, 1995 by Houghton Mifflin Company. Published by Houghton Mifflin Company.
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