Phenylketonuria is an inherited metabolic disorder caused by a defect in the hydroxylation of phenylalanine. Newborn screening is crucial for the diagnosis and treatment of this disease. A phenylalanine dehydrogenase-coupled enzymatic assay (Quantase) in microtiter plates for the screening of phenylketonuria was evaluated and compared with our routine method based on the modified fluorometric McCaman method. The test exhibited a linear calibration curve with a good slope as well as sufficient imprecision (< 10%), recovery (99.23+/-4.86%) and limit of detection (54.5 micromol/l). One hundred and ninety dried blood spots were analysed by this enzymatic method and compared with McCaman's. Although Quantase (Teknovas, Bilbao, Spain) showed a phenylalanine mean level in dried blood spot 18.2 micromol/l higher than that obtained with our routine method, the agreement between both techniques was considered acceptable.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.