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用荧光分光光度法测定红细胞半乳糖-1-磷酸尿苷转移酶(Galactose-1-Phosphate Uridyl Transferase,简称 GPUT)活性,102名正常人的 GPUT 活性为13.34±2.03U,男、女性别和年龄的差别无统计学意义;108名先天性白内障病人的 GPUT 活性为11.58±4.03U,比正常对照组低,P<0.01.其中14例先天性白内障病人的GPUT 活性为4.02～7.13U,低于对照组的平均值减去3个标准差以下(即<7.24U),平均5.93U,相当于对照组平均值的44.45%,占先天性白内障病人的12.96%,与对照组比较,P<0.001.研究结果说明部分先天性白内障的病因是由于 GPUT 活性降低引起.这组酶活性降低病人临床上主要表现为白内障而全身损害轻.
The activity of galactose-1-Phosphate Uridyl Transferase (GPUT) was determined by fluorescence spectrophotometry. The GPUT activity of 102 normal people was 13.34 ± 2.03U, male, female and age Of 108 patients with congenital cataracts GPUT activity was 11.58 ± 4.03U, lower than the normal control group, P <0.01.Fourteen patients with congenital cataracts GPUT activity was 4.02 ~ 7.13U, lower than The average value of the control group less than 3 standard deviations (ie, <7.24U), an average of 5.93U, equivalent to 44.45% of the average control group, accounting for 12.96% of patients with congenital cataracts, compared with the control group, P <0.001 The results suggest that the etiology of some congenital cataracts is due to the decrease of GPUT activity, which is mainly caused by the cataract in patients with clinically significant cataract and mild systemic damage.