maple syrup urine disease
(US maple sirup urine disease) Medicine
noun
A metabolic disorder leading in its most severe form to psychomotor retardation and early death, in which the urine has a characteristic odour of maple syrup due to the presence of the amino acids leucine, isoleucine, and valine, and some of their metabolites.
Origin
1950s; earliest use found in The British Medical Journal.
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