What is "maple syrup urine disease"

n. branched-chain ketoaciduria, an autosomal recessive metabolic disorder affecting branched-chain amino acids and causing the urine to have a distinctive sweet odour

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 [syn: branched chain ketoaciduria]

Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine, particularly prior to diagnosis, and during times of acute illness.