Abstract
Abstract An automated micromethod for assay of galactose-1-phosphate uridyl transferase in blood samples dried on filter paper based on the fluorescence of NADPH produced in the conversion of galactose-1-phosphate to 6-phosphogluconic acid is described. The criteria of precision and accuracy, speed and reasonable cost have been met which should make the procedure acceptable for diagnosis of transferase-deficiency galactosemia. The method is adaptable to case-finding studies in high-risk populations in institutions for the mentally retarded, for early detection of transferase-deficiency galactosemia in newly born infants, and for family studies.
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