目的:通过对苯丙酮尿症(Phenylketonuria,PKU)疾病的筛查,研究保定市新生儿苯丙酮尿症的发病情况,以便做到早诊断、早治疗。方法:新生儿出生后72 h,体重>2 500 g,喂足6次奶后采集足跟血于903滤纸上自然晾干制成干血片,用荧光法定量测定干血片苯丙氨酸浓度,>2.0 mg/dl进行复查。结果:2007年1月～2010年10月,共筛查新生儿304 576例,覆盖率为55.2%,确诊PKU 40例,男孩23例,女孩17例,男女比例为1.35∶1,发病率为1∶7 614,明显高于全国水平。 Objective: To investigate the incidence of phenylketonuria in newborns in Baoding through screening of Phenylketonuria (PKU) diseases in order to achieve early diagnosis and early treatment. Methods: The newborn born 72 h after birth, weight> 2500g, fed six times milk heel blood collected on the 903 filter paper dried naturally made of dry blood films, fluorescence quantitative determination of dry blood phenylalanine Concentration,> 2.0 mg / dl for review. Results: From January 2007 to October 2010, 304 576 newborns were screened with a coverage rate of 55.2%. 40 cases were diagnosed with PKU, 23 cases were boys and 17 cases were girls, the ratio of male to female was 1.35:1. The incidence rate was 1:7 614, significantly higher than the national standard.