Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 1021-1026 |
| Number of pages | 6 |
| Journal | Translational Research |
| Volume | 79 |
| Issue number | 6 |
| State | Published - Jun 1972 |