An improved method for the determination of 5-phosphoribosyl-1-pyrophosphate (PRPP) in red blood cells is presented. Purine nucleotide is synthesized in the hemolysate in the presence of a saturating amount of radioactive purine base, the reaction being catalyzed by erythrocyte phosphoribosyltransferase. PRPP synthesis in the hemolysate during the assay is prevented by added 2,3-diphosphoglyceric acid. Application of this method to HGPRT-deficient (hypoxanthine-guanine phosphoribosyltransferase) erythrocytes showed increased PRPP content in 2 subjects with the Lesch-Nyhan syndrome and in 1 out of 2 patients with partial enzyme deficiency.
|Number of pages||6|
|State||Published - Jun 1972|