浙江省726 998名新生儿苯丙酮尿症筛查分析

目的:通过对苯丙酮尿症(PKU)疾病的筛查,了解浙江省遗传性代谢病苯丙酮尿症疾病的发病情况及临床类型.方法:取出生72 h后并喂足高蛋白奶6次以上的726 998例新生儿足跟末梢血,应用荧光定量法测定血苯丙氨酸(phe)水平.结果:在726 998例新生儿中检出phe增高(phe>121.0 μmol/L)的可疑者152例,经血清氨基酸分析(其中宁波可疑10例,确诊7例),确诊PKU患儿32例,其中经典型PKU 26例,高苯丙氨酸血症5例,四氢生物喋呤(BH4)缺乏症1例.确诊治疗最早时间为16 d,最晚为105 d,中位数为32 d.结论:浙江省苯丙酮尿症检出率为1/22 718.

Screening for phenylketonuria in 726 998 neonates in Zhejiang Province

Objective: To analyze the results of screening for neonatal phenylketonuria (PKU) in Zhejiang Province. Methods: The screening for neonatal PKU was conducted among 726 998 newborns in Zhejiang Province.Heel prick blood specimens were collected around 72h after birth with 6 intakes of high protein milk and the specimens were dried on S & S903 filter papers.Phenylalanine (Phe) levels were determined quantitatively with Perkin Elmer Neonatal Fluorometric PKU kits. Results: Among 726 998 newborns,elevated blood Phe levels were found in 152 infants.They were all recalled for serum amino acid analysis and 32 were confirmed to have PKU with 19 males and 13 females.The earliest time of confirmation was 16 d and latest was 105 d with the median of 32 d. Conclusion: The data shows that the detection rate of screening for neonatal phenylketonuria in Zhejiang Province was 1/22 718.