title: Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.
abstract: Genetic mutations in the purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HPRT), are known to cause Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome. In patients, purine metabolism is different from that of normal persons. We have previously developed a method for simultaneously determining the concentration of purine and pyrimidine nucleosides and nucleotides. This system was applied to determine the concentrations of nucleosides and nucleotides in HPRT-deficient cell lines. The amount of inosine 5'-monophosphate (IMP) was different in Lesch-Nyhan syndrome, Kelley-Seegmiller syndrome, and control cell lines. The difference in the amount of IMP confirmed the mutation of the enzyme.
authors: Department of Analytical Chemistry, School of Pharmaceutical Sciences, Teikyo University, Kanagawa, Japan. n.yam@pharm.teikyo-u.ac.jp
authors: N
authors: N
authors: Yamaoka
authors: K
authors: K
authors: Inazawa
authors: S
authors: S
authors: Inagawa
authors: M
authors: M
authors: Yasuda
authors: K
authors: K
authors: Mawatari
authors: K
authors: K
authors: Nakagomi
authors: S
authors: S
authors: Fujimori
authors: Y
authors: Y
authors: Yamada
authors: K
authors: K
authors: Kaneko
mesh_terms: D002460:Cell Line; D002853:Chromatography, Liquid; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000378:metabolism; D013058:Mass Spectrometry; D011687:Purines / Q000378:metabolism*; D011743:Pyrimidines / Q000378:metabolism*
chemical_list: D011687:Purines; D011743:Pyrimidines; D007041:Hypoxanthine Phosphoribosyltransferase; C030986:pyrimidine; C030985:purine