鸟氨酸氨甲酰基转移酶缺陷症尿液标志物的气相色谱-质谱法分析  

Analysis of urinary markers for ornithine transcarbamylase deficiency by gas chromatography-mass spectrometry

作　　者：宋元宗[1] 郝虎[1] 柳国胜[1] 肖昕[1] 王自能[2] 

机构地区：[1]暨南大学第一附属医院儿科,广东广州510630 [2]暨南大学医学院妇产科学教研室,广东广州510630

出　　处：《基础医学与临床》2007年第7期811-814,共4页Basic and Clinical Medicine

基　　金：国家重点基础研究发展计划(2001CB510305);广东省科技计划(2004B50301018)

摘　　要：目的探讨鸟氨酸氨甲酰基转移酶缺陷症的4个尿液标志物,即乳酸、尿嘧啶、乳清酸和马尿酸的气相色谱-质谱法定性、定量分析方法。方法尿素酶分解尿标本中尿素,加入内标十七酸,蛋白质用乙醇变性并离心去除。上清液真空干燥后残余物以BSTFA/TMCS三甲基硅烷化,而后行气相色谱-质谱法分析。结果以上标志物在总离子流图上分离良好,并经质谱图定性。鸟氨酸氨甲酰基转移酶缺陷症患儿治疗前尿液中乳酸、尿嘧啶和乳清酸水平明显增高,经苯甲酸钠等治疗后降至正常或者基本正常,同时伴随马尿酸大量经尿排泄。结论在鸟氨酸氨甲酰基转移酶缺陷症患者的临床诊断和疗效评价方面,尿液标志物的GC-MS分析是一种有价值的工具。Objective To develope both qualitative and quantitative analytic method of the four urinary markers,i. e. lactate, uracil, orotate and hippurate, from ornithine transcarbamylase deficiency （OTCD） by Gas Chromatography-Mass Spectrometry （GC-MS）. Methods Urea in urine samples was decomposed with urease, and heptadecanoiate was added as internal standard, then protein was denatured with ethanol and removed by centrifugation. After evaporation, the residue was derivatized trimethylsilylly by BSTFA/TMCS, and analyzed by GC-MS. Results The markers can be separated in total ion current profiles, with indentifications confirmed by mass spectra. The significantly elevated levels of lactate, uracil and orotate in urine from OTCD patient were droped to normal or subnormal levels, together with large amount of hippurate excretion in the urine, after clinical therapeutic measures,including introduction of benzoic acid, were performed. Conclusion GC-MS analysis of the urinary markers is a valuable tool for the diagnosis and evaluation of the therapeutic outcome of OTCD.

关 键 词：鸟氨酸氨甲酰基转移酶缺陷症 气相色谱法 质谱法 

分 类 号：R446.12[医药卫生—诊断学]