An abnormality in the protein (enzyme)
impo
rtant in catalyzing a normal biochemical reaction in the body. Disorders result from a
deficiency (or functional abnormality) of an enzyme. Archibald Garrod in 1902 was the
first to attribute a disease to an enzyme defect: an inborn error of metabolism. Today,
newborns are routinely screened for certain enzyme defects such as phenylketonuria (PKU)
and galactosemia, an error in the handling (metabolism) of the sugar galactose.
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