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.
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... C3 deficiency of dogs was reported; although the exact nature of this defect is unclear. Up to 1986 there were no other C3 defects known in animals, ... an unimpaired capacity for synthesis and secretion of C3 as measured by enzyme-linked immunosorbent assays. Possibly the fault resides in an enhanced ...
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