A new approach to the newborn screening for hyperphenylalaninemias: use of L-phenylalanine dehydrogenase and microtiter plates

Abstract

We adapted the recently described colorimetric method for the specific determination of phenylalanine to a microplate assay using a NAD(H)-dependent L-phenylalanine dehydrogenase. With respect to sensitivity, analytical recovery and interrun imprecision this method for measuring phenylalanine in eluates of paper-dried blood spots is suitable for routine newborn screening for hyperphenylalaninemias. In contrast to the microbiological Guthrie assay, with the enzymatic method quantitative data may be obtained on the same day, also in the blood of newborns on antibiotic treatment.