目的:了解新生儿代谢性疾病的发生情况并能及时得到治疗。方法:2004年10月~2009年9月长春市新生儿疾病筛查中心对全市各助产机构出生的新生儿131 721例进行了疾病筛查。结果:确诊患儿53例,其中高苯丙氨酸血症(HPA)26例,发病率为1∶5 066,与我国调查数据1∶11 180比较明显偏高;先天性甲状腺功能低下症27例,发病率为1∶4 878,与我国调查数据1∶3 624比较接近。在确诊的26例高苯丙氨酸血症患儿中,女性12例,男性14例,17例居住在农村占65.38%;城市发病率1∶9 491,农村发病率1∶2 836,虽然符合北方发病率高于南方,但就北方而言,长春市亦属高发地区,农村明显高于城市,且农安县、榆树市两地的高苯丙氨酸血症患儿数居多。先天性甲状腺功能低下症27例中,女性11例,男性16例,9例居住农村占33.33%,发病率为1:4878,两病中男女性别比差别不明显。结论:对确诊的高苯丙氨酸血症患儿进行跟踪治疗,摸索出一套有效地个体化治疗方法。 Objectives: To understand the occurrence of neonatal metabolic diseases and timely treatment. Methods: From October 2004 to September 2009, Changchun Newborns Disease Screening Center conducted disease screening of 131 721 newborns born in various midwifery institutions across the city. Results: Of the 53 children diagnosed, 26 cases were diagnosed as hyperphenylalaninemia (HPA), the incidence rate was 1: 0566, which was significantly higher than the survey data of China: 1:11 180; congenital hypothyroidism For example, the incidence rate of 1: 4878, and our survey data 1: 3624 is relatively close. Of the 26 confirmed cases of hyperphenylalaninemia, 12 were female, 14 were male, and 17 were living in rural areas accounting for 65.38%. The urban prevalence was 1: 9491 and the incidence was 1: 2836 in rural areas. In line with the northern incidence rate higher than the south, but in the north, Changchun City is also a high incidence of rural areas was significantly higher than the city, and Nong’an County, Yushu City, the majority of children with hyperphenylalaninemia. Among 27 cases of congenital hypothyroidism, 11 were female, 16 were male, and 9 were living in rural areas accounting for 33.33%. The incidence rate was 1: 4878. There was no significant difference between male and female in the two diseases. Conclusion: The follow-up treatment of children diagnosed with hyperphenylalaninemia, to explore a set of effective individualized treatment.