maple syrup urine disease

maple syrup urine disease definition - medical

ma·ple syr·up urine disease (māˈpəl sĭrˈəp, sûrˈ-)

noun
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® Medical Dictionary Copyright © 2009 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

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