嘌呤核苷磷酸化酶缺乏症患者尿中乳清酸、乳清苷及其他嘧啶的排泄情况

Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.

作者信息

van Gennip A H, Grift J, de Bree P K, Zegers B J, Stoop J W, Wadman S K

出版信息

Clin Chim Acta. 1979 May 2;93(3):419-28. doi: 10.1016/0009-8981(79)90293-6.

Abstract

Urinary orotidine and orotic acid have been determined in a patient with purine nucleoside phosphorylase (PNP) deficiency under various dietary therapeutic conditions. For this purpose a new procedure for the analysis of both compounds has been developed, consisting of prefractionation with Dowex 1X8, followed by two HPLC steps on a micro Bondapak NH2 and a micro Bondapak C18 column. With this method normal as well as slightly elevated excretions of orotic acid have been found in our patient. No evidence was obtained for inhibition of OPRT by purine (deoxy)nucleosides as a cause of pyrimidine starvation. A significant increase of urinary orotidine was found after loading with allopurinol. For comparison excretory values in a patient with ornithine transcarbamylase deficiency and also in a patient with orotic aciduria type I are shown. The possible cause of the slight increase in urinary orotic acid in our patient has been discussed.

摘要

在不同饮食治疗条件下，对一名患有嘌呤核苷磷酸化酶（PNP）缺乏症的患者的尿液乳清苷和乳清酸进行了测定。为此，开发了一种分析这两种化合物的新方法，该方法包括先用Dowex 1X8进行预分离，然后在微型Bondapak NH2和微型Bondapak C18柱上进行两步高效液相色谱分析。使用这种方法，在我们的患者中发现了乳清酸的正常排泄以及略有升高的排泄情况。没有证据表明嘌呤（脱氧）核苷对乳清苷磷酸核糖转移酶的抑制是嘧啶饥饿的原因。服用别嘌呤醇后，发现尿液乳清苷显著增加。作为比较，还展示了一名鸟氨酸转氨甲酰酶缺乏症患者以及一名I型乳清酸尿症患者的排泄值。讨论了我们患者尿液中乳清酸略有增加的可能原因。