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Maple syrup urine disease

Definitions:

Noun

maple syrup urine disease branched chain ketoaciduria

Definition: 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

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

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