AUTOMATED SCREENING SYSTEM FOR PURINE AND PYRIMIDINE METABOLISM DISORDERS USING HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY

An automated screening system for purine and pyrimidine metabolism dis orders using high-performance liquid chromatography (HPLC) with column switching is described. The system consists of a reversed-phase colum n, a cation-exchange column, a column switch, four sets of ultraviolet absorbance detectors, a microcomputer and other conventional equipmen t. As this system permits the simultaneous determination of urinary er otic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydro xyadenine and succinyladenosine, it offers a useful method for the det ection of erotic aciduria, dihydropyrimidine dehydrogenase deficiency, diphydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency.