The Anaesthetic Management of a Patient with Maple Syrup Urine Disease.

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain aminoacids. It leads to a build-up of leucine, isoleucine, valine, and toxic metabolites in blood and urine, progressing to acute and chronic brain dysfunction. The first symptoms appear in early childhood and are characterized by sweet-smelling urine, with an odor similar to that of maple syrup.