branched chain ketoaciduria, n.
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
<noun.state>
branched chain ketoaciduria
maple syrup urine disease
semantic pointers
hypernym
genetic disease, genetic disorder, genetic abnormality, genetic defect, congenital disease, inherited disease, inherited disorder, hereditary disease, hereditary condition
ketonuria, ketoaciduria, acetonuria