Definition of maple syrup urine disease in English:

maple syrup urine disease

(US maple sirup urine disease)


  • 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.


1950s; earliest use found in The British Medical Journal.