branched chain ketoaciduria

Explore definitions, synonyms, and language insights of branched chain ketoaciduria

Definitions

Noun

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

More General Terms

acetonuria congenital disease genetic abnormality genetic defect genetic disease genetic disorder hereditary condition hereditary disease inherited disease inherited disorder ketoaciduria ketonuria