Abstract

Succinyladenosine (S-Ado) is a biochemical marker of adenylosuccinase deficiency – the genetic defect of purine de novo synthesis. S-Ado has been previously reported as normally undetectable in cerebrospinal fluid (CSF) of children not suffering from this defect. In present study, we employed solid-phase extraction and thin-layer chromatography for isolation of a compound with spectral and chromatographic characteristics identical to S-Ado from human CSF. The high-performance liquid chromatography–negative-ion electrospray ionization mass spectrometry analysis confirmed that the isolated compound is S-Ado. We established the reference values of S-Ado in CSF of children (1.1±0.4 μmol/l; mean±S.D; n=26) by means of reversed-phase HPLC method on a C 18 column with UV detection.

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