Synonyms/Hypernyms (Ordered by Estimated Frequency) of noun branched_chain_ketoaciduria

1 sense of branched chain ketoaciduria

Sense 1
maple syrup urine disease, 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)
       => ketonuria, ketoaciduria, acetonuria -- (excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation)
       => genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition -- (a disease or disorder that is inherited genetically)