maple syrup urine disease

Noun maple syrup urine disease has 1 sense

• maple syrup urine disease(n = noun.state) 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;
is a kind of congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, acetonuria, ketoaciduria, ketonuria