Krijt J, Kmoch S, Hartmannová H, Havlícek V, Sebesta I
Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
J Chromatogr B Biomed Sci Appl. 1999 Apr 16;726(1-2):53-8. doi: 10.1016/s0378-4347(99)00024-9.
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 micromol/l; mean +/- S.D; n = 26) by means of reversed-phase HPLC method on a C18 column with UV detection.
琥珀酰腺苷（S-Ado）是腺苷琥珀酸酶缺乏症的生化标志物，腺苷琥珀酸酶缺乏症是嘌呤从头合成的遗传缺陷。此前有报道称，在未患此缺陷的儿童脑脊液（CSF）中通常检测不到S-Ado。在本研究中，我们采用固相萃取和薄层色谱法从人脑脊液中分离出一种具有与S-Ado相同光谱和色谱特征的化合物。高效液相色谱-负离子电喷雾电离质谱分析证实，分离出的化合物为S-Ado。我们采用反相高效液相色谱法在C18柱上进行紫外检测，建立了儿童脑脊液中S-Ado的参考值（1.1±0.4微摩尔/升；平均值±标准差；n = 26）。
