半乳糖血症患儿尿液气相色谱-质谱结果分析  

Analysis of Urine Metabolites by Gas Chromatography-Mass Spectrometry in Children with Galactosemia

作　　者：梅慧芬[1] 刘丽[1] 李秀珍[1] 程静[1] 赵小媛[1] 范莉萍[1] 黄俊菁[1] 林文春[1] 

机构地区：[1]广州医学院附属广州市儿童医院内分泌代谢科,广州510120

出　　处：《实用儿科临床杂志》2006年第20期1371-1372,1395,共3页Journal of Applied Clinical Pediatrics

基　　金：973国家重点基础研究发展规划项目资助(2001CB510306);广东省科技厅计划项目资助(2004B36001040)

摘　　要：目的应用气相色谱-质谱(GC-MS)技术检测10例半乳糖血症患儿治疗前后尿液,以建立半乳糖血症的化学诊断方法。方法留取10例半乳糖血症患儿治疗前后尿液和60例同年龄段正常儿童尿液,尿液经尿素酶处理后用GC-MS检测尿代谢产物。结果半乳糖血症患儿尿中检测出至少34种代谢物,其中半乳糖、半乳糖醇、半乳糖酸、酪氨酸、4-羟基苯乙酸、4-羟基苯乳酸水平均较正常对照组明显升高(P均<0.05),二氢尿嘧啶水平较正常对照组显著降低(P<0.05),治疗后除4-羟基苯乳酸外,其他均恢复至正常范围。结论GC-MS检测尿中半乳糖、半乳糖醇、半乳糖酸水平可诊断半乳糖血症。Objective To establish chemical diagnosis method of galactosemia and detect urine metabolites in 10 cases with galactosemia by gas chromatography - mass spectrometry. Method Ten cases with galactosemia＇s urine before and after treatment and 60 norreal children＇s urine were analyzed by urease pretreated gas chromatography - mass spectrometry method. Results At least 34 metabolites could be detected in galactosemia patients＇ urine, tyrosine, 4 - hydroxybenzene acetic acid, 4 - hydroxybenzene lactate, galactose, galactitol and galactonic acid in pre- treatment galactosemia patients,which were significantly higher than those in normal control group （all P 〈 0.05）, and the level of urine 2,4 dihydropyrimindine in pre - treated galactosemia patients was significantly lower than that in normal control group（ P〈 0.05）. Those metabolites elevated in pre- treated galactosemia patients＇ urine became normal after treatment except 4 - hydroxybenzene lactate. Conclusion Galactosemia may be chemically diagnosed according to urine galactose, galactitol and galactonic acid determination by gas chromatography - mass spectrometry.

关 键 词：半乳糖血症 气相色谱-质谱 尿素酶 

分 类 号：R725.8[医药卫生—儿科]