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Quantitative determination of purine and pyrimidine bases profile in urine by the LC-MS/MS technique

  • Test objective: Analysis of the purine and pyrimidine bases (P/P) profile, which enables the detection of approximately 30 enzymatic defects in their metabolism. These include:
    • pyrimidine metabolism defects:
      • dihydropyrimidine dehydrogenase deficiency (uracil-tyrosinuria) (DPD)
      • thymidine phosphorylase deficiency (MNGIE)
    • purine metabolism defects:
      • hypoxanthine-guanine phosphoribosyltransferase deficiency (complete HPRT; Lesch-Nyhan syndrome, LNS)
      • hypoxanthine-guanine phosphoribosyltransferase deficiency (partial HPRT; Kelley-Seegmiller syndrome, KSS)
      • adenine phosphoribosyltransferase deficiency (APRT)
      • purine nucleoside phosphorylase deficiency (PNP)
      • molybdenum cofactor deficiency (MCF)
      • xanthine oxidase deficiency (Type I xanthinuria, XDH)
      • aldehyde oxidase and xanthine oxidase deficiency (Type II xanthinuria, XDH/AO)
      • overactivity of phosphoribosylpyrophosphate synthetase I (PRPS I)
      • familial juvenile hyperuricemic nephropathy (FJHN)
      • other hyperuricosuria with/without hyperuricaemia
      • other hypouricaemia with/without hypouricosuria
  • Method of testing: High-performance liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS).
  • Analysed substances: Uric acid, Uracil, Thymine, Thymidine, Adenine, Deoxyadenosine, Inosine, Guanosine, Deoxyguanosine, Xanthine, Hypoxanthine, Xanthosine, Guanine, Uridine, Pseudouridine, Cytidine, Cytosine.
  • Type of test material: Urine (single urine sample)
  • Test category: Metabolomics