branched chain ketoaciduria

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Noun1.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
acetonuria, ketoaciduria, ketonuria - excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation
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References in periodicals archive ?
Biochemical studies on a variant of branched chain ketoaciduria in a 19-year-old female.