微型双向薄层色谱分析诊断氨基酸代谢病(附24例检测报告)  

Two Dimensional Micro-Scale Thin Layer Chrometography for Analysis of Amino Acid Metabolic Diseases

作　　者：李钰[1] 段玉琴[1] 陈伟[1] 刘霜[1] 张贵寅[1] 

机构地区：[1]哈尔滨医科大学遗传学教研室

出　　处：《哈尔滨医科大学学报》1993年第1期40-43,共4页Journal of Harbin Medical University

摘　　要：本文采用微型双向薄层色谱(TLC)分析法,检查了遗传门诊中24名可疑有氨基酸代谢异常的初筛病儿,对其中18例做了血、尿TLC分析,11例诊断为异常,其中8例为苯丙酮尿症(PKU)。3例为同型胱氨酸尿症(HCU)。该检测方法简便、灵敏、快速、重复性好,是诊断氨基酸代谢病的一个良好方法。It is reported that detects amino acid metabolic diseases (AAMD) by two dimensional micro-scale thin layer chrometography (TLC) method in this paper. At first, using routine method, we detected 24 cases of doubtful AAMD in genetic clinic. Then we analysed the samples of blood and urine from 18 cases of them with TLC method. In the 18 cases, 11 cases were diagnosed as affected with AAMD, among which 8 cases showed high phenylalanine in blood, diagnosed as phenylketonuria (PKU). Other 3 cases showed high methionine or homocystinuria (HCU). This method was quite simple, rapid, sensitive, with good separable and repeated effect. So it is a remarkable method in diagnosing AAMD.

关 键 词：色谱法 氨基酸代谢病 诊断 

分 类 号：R589.304[医药卫生—内分泌]