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Medical Definition of Enzyme defect
1. A disorder resulting from a deficiency (or functional abnormality) of an enzyme. In 1902 Archibald Garrod first attributed a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects such as PKU (phenylketonuria) and galactosaemia, an error in the handling (metabolism) of the sugar galactose. (12 Dec 1998)
Lexicographical Neighbors of Enzyme Defect
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