Quantitative determination of purine and pyrimidine bases profile in urine by the LC-MS/MS technique
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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:
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pyrimidine metabolism defects:
- dihydropyrimidine dehydrogenase deficiency (uracil-tyrosinuria) (DPD)
- thymidine phosphorylase deficiency (MNGIE)
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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
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pyrimidine metabolism defects:
- 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