东营市111004例新生儿甲基丙二酸血症筛查及诊治分析

Screening,diagnosis and treatment of 111004 cases of neonatal methylmalonic acidemia in Dongying city

目的回顾性分析本地区新生儿甲基丙二酸血症(MMA)筛查情况,探讨本地区新生儿MMA发病率、诊治情况,以总结经验,指导工作。方法选择本地区出生48 h后经充分哺乳的新生儿,采足跟血片,应用串联质谱技术检测血片游离肉碱和酰基肉碱水平,可疑阳性新生儿进行尿有机酸分析、血同型半胱氨酸、血生化及基因检测等以明确诊断。结果本地区2016年7月至2020年10月共筛查新生儿111004例,确诊MMA患儿17例,MMA患病率为1/6530,其中维生素B12有效型12例,占70.6%,无效型5例,占29.4%,确诊后给予积极干预治疗,大多预后良好。结论新生儿甲基丙二酸血症筛查可以早期诊断MMA患儿,通过早期干预治疗,可以明显改善预后,对提高本地区出生人口素质具有重要意义。

Objective To retrospectively analyze the screening of neonatal methylmalonic acidemia(MMA),to explore the incidence,diagnosis and treatment of neonatal MMA in this area,in order to summarize experience,guidance work.Methods The levels of Free Carnitine and acyl carnitine were measured by tandem mass spectrometry(MS)in the heel blood tablets of 48-hour-old lactating newborns,urine organic acid analysis,blood homocysteine,blood biochemistry,and genetic testing were performed in suspected positive newborns to confirm the diagnosis.Results From July 2016 to October 2020,a total of 111004 newborns were screened,17 cases were diagnosed with MMA and the prevalence rate of MMA was 1/6530.Among them,12 cases(70.6%)were of vitamin B12-effective type,5 cases(29.4%)were of no effect type,most of them have a good prognosis.Conclusion Neonatal methylmalonic acidemia screening can be an early diagnosis of MMA in children,through early intervention treatment,can significantly improve the prognosis,to improve the quality of the local population is of great significance.