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Enzyme defect: 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 galactosemia, an error in the handling (metabolism) of the sugar galactose.

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