Abstract
We investigated the neonatal screening procedure for adenine phosphoribosyltransferase (APRT) deficiency in dried blood, collected on filter paper. We examined APRT activity of bried blood specimen by fluorescent spot test and microfluorometric analysis. APRT spot test was easy to perform and rapid method, and enabled simultaneous measurements of many samples. And, all APRT deficiency samples gave the positive result in this test. On the other hand, the APRT activity measured by the quantitative method using fluorescence microplate reader. The spot test and microfluorometric method should be recommended for the APRT deficiency screening tests in order to pick up lower activity samples.
