【摘要】 目的：对66例苯丙酮尿症患儿苯丙氨酸羟化酶基因突变特点及智力发育进行分析，为苯丙酮尿症的防治及遗传咨询提供参考。方法：收集哈尔滨市妇幼保健计划生育服务中心确诊的66例苯丙酮尿症患儿资料，通过苯丙氨酸羟化酶缺乏症基因检测、全外显子测序，对66例苯丙酮尿症患儿进行基因突变位点分析。采用《0～6岁儿童发育行为评估量表》（WS/T 580—2017）对0～6岁儿童智力发育进行评估，采用韦氏智力测试表、瑞文智力测试表对6岁及以上儿童进行智力评估。结果：66例苯丙酮尿症患儿共检出40种苯丙氨酸羟化酶基因突变，130个突变位点。其中，高频基因突变位点为c.728G>A （占25.0%）、c.611A>G （占7.7%）、c.1068C>A （占6.9%）。智力评估不达标组患儿饮食控制不好，苯丙氨酸血值不稳定，超出理想范围，不能做到遵医嘱进行复查（依从性低）。结论：66例苯丙酮尿症患儿的基因突变位点以c.728G>A、c.611A>G和c.1068C>A为主。饮食控制不好导致患儿苯丙氨酸超过理想范围，同时其不遵医嘱进行复查，这些会影响其智力发育。更多还原

【Abstract】 OBJECTIVEThe analysis of 66 children with phenylketonuria was analyzed to provide reference for the prevention and treatment of phenylketonuria and genetic counseling. METHODS Through phenylalanine hydroxylase deficiency(PAH) gene detection and total exon sequencing, 66 children with phenylketonuria were analyzed. The intellectual development of children aged0 to 6 years old was assessed by Developmental Behavioral Assessment Scale in Children Aged 0 to 6 Years(WS/T 580—2017), and the intelligence assessment of children aged 6 years and above was performed. RESULTS A total of 40 phenylalanine hydroxylase gene mutations and 130 mutation sites were detected in 66 children with phenylacetonuria. Among them, the high-frequency gene mutation site was c.728G>A(25.0%), c.611A>G(7.7%), c.1068C>A(6.9%). The children in the substandard group had poor diet control, the phenylalanine blood value was unstable, beyond the ideal range, and could not follow the doctor’s advice for review(low compliance). CONCLUSION 66 children had c.728G>A, c.611A>G, c.1068C>A. Poor diet control leads to children with phenylalanine over the ideal range, and they do not follow the doctors’ advice to review, which will affect their intellectual development.更多还原