新疆南疆地区146092例新生儿苯丙酮尿症筛查结果分析

Analysis of the screening results of 146092 neonatal phenylketonuria in south region of Xinjiang

目的对新疆南疆地区146 092例新生儿进行苯丙酮尿症(phenylketonuria,PKU)筛查,探讨新疆南疆地区近三年新生儿苯丙酮尿症的发病情况。方法采用化学荧光法检测干滤纸血片中苯丙氨酸(phenylalanine,Phe)浓度。结果新疆南疆地区新生儿苯丙酮尿症的发病率平均约为0.431‰,高于全国平均水平。结论了解苯丙酮尿症在新疆南疆地区的发病情况;在新疆南疆地区进行新生儿PKU筛查具有重要意义。

Objective： For phenylketonuria screening of 146 092 neonates in the south region of Xinjiang, to discuss the incidence in south region of Xinjiang nearly three years of neonatal phenylketonuria. Methods. Fluorometric determination to tested concentration in dry blood filter paper of Phenylalanine. Results： The average incidence in south region of Xinjiang of neonatal phenylketonuria was 0.431%o. It＇s higher than the national average level. Conclusion： Understanding the incidence in south region of Xinjiang of neonatal PKU, So there is an important significance in this area.