Enzyme defect

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 galactosaemia, an error in the handling (metabolism) of the sugar galactose.


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