Noun: maple syrup urine disease
- An inherited disorder of metabolism in which the urine has a odour characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
"The distinctive smell of the newborn's urine led doctors to test for maple syrup urine disease";
- branched chain ketoaciduria
Type of: acetonuria, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder, ketoaciduria, ketonuria
Encyclopedia: Maple syrup urine disease