See Also: defect, enzyme(medicine)
enzyme defect(medicine)
Enzyme defect(health)
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defect(2)(dictionary)

defect, enzyme (medicine)


defect, enzyme


An abnormality in the protein (enzyme) important 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 galactosaemia, an error in the handling (metabolism) of the sugar galactose.