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目的:了解广西地区高苯丙氨酸血症(HPA)发病情况以及与国内其他省市发病率比较。方法:对2009～2011年在广西新生儿疾病筛查中心进行苯丙酮尿症筛查的424 725例新生儿以及10例确诊HPA患儿资料进行分析,并与国内其他省市报道的HPA发病率进行比较。结果:广西地区HPA发病率为1∶42 472,包括经典型苯丙酮尿症、BH4反应性苯丙酮尿症以及轻度高苯丙氨酸血症,确诊患者中包括汉族、壮族人。结论:广西地区HPA发病率低于国内其他地区,不同民族HPA发病率有待总结分析。
Objective: To understand the incidence of hyperphenylalaninemia (HPA) in Guangxi and its incidence with other provinces in China. Methods: The data of 424 725 neonates with phenylketonuria screening and neonatal confirmed HPA in Guangxi Neonatal Disease Screening Center from 2009 to 2011 were analyzed. The data were compared with the reported incidence of HPA in other provinces and cities in China Compare. Results: The prevalence of HPA in Guangxi was 1:42 472, including classical phenylketonuria, BH4-responsive phenylketonuria, and mild hyperphenylalaninemia. Han and Zhuang were diagnosed. Conclusion: The incidence of HPA in Guangxi is lower than that in other areas in China. The incidence of HPA in different ethnic groups needs further analysis.