| 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 congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited genetically acetonuria, ketoaciduria, ketonuria - excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation |