branched chain ketoaciduria

Noun

1.

branched chain ketoaciduria - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood Synonyms: maple syrup urine disease

acetonuria, congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, ketoaciduria, ketonuria, maple syrup urine disease