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Dictionary » E » Enzyme defect Enzyme defectEnzyme 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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Results from our forumThe Fiber Disease... 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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