摘要
目的 明确串联质谱技术对新生儿甲基丙二酸血症(MMA)筛查的意义,评估本地甲基丙二酰辅酶A变位酶(MCM)缺乏型(mut型)MMA疾病的发生率.方法 利用串联质谱技术对2013年10月至2023年7月在当地出生的新生儿进行MMA筛查,对MMA疾病mut型进行评估.结果 MMUT基因突变型MMA患儿血液中游离肉碱(C0)、丙酰基肉碱(C3)、丙酰基肉碱/游离肉碱(C3/C0)、丙酰基肉碱/乙酰基肉碱(C3/C2)等指标浓度值异常.检测到MMUT基因的 9 种变异类型:c.1106G＞A、c.729_730insTT、c.613G＞A、c.1741 C＞T、c.967A＞G、c.1280G＞A、c.2179C＞T、c.1159A＞C、c.914T＞C.结论 mut型MMA预后较差,对患儿家庭进行一、二、三级联合预防,能有效地早诊断、早治疗,降低病残率.
Abstract
Objective To understand the significance of tandem mass spectrometry in screening neonatal methyl-malonic acid(MMA),and evaluate the incidence of methylmalonyl coenzyme A mutase deficiency(mut type)MMA disease in the local area.Methods MMA screening was performed on locally newborns born from October 2013 to July 2023 using tan-dem mass spectrometry technology,and the mut type of MMA disease was evaluated.Results The concentrations of blood free carnitine(C0),propionyl carnitine(C3),propionyl carnitine/free carnitine(C3/C0),propionycarnitine/acetylcarnitine(C3/C2)and other indicators children were abnormal of simple type MMA(MMUT mutation)neonatal.Nine types of mutations were detected in the MMUT gene:c.1106G＞A,c.729_730insTT,c.613G＞A,c.1741C＞T,c.967A＞G,c.1280G＞A,c.2179C＞T,c.1159A＞C,c.914T＞C.Conclusion mut type MMA remains a disease of poor prognosis.Combined prevention at the first,second,and third levels can be beneficial to early diagnose and treatment,and reduce the disability rate.
基金项目
山东省医药卫生科技发展计划(202111000225)
淄博市医药卫生科研项目(20231800131)
NETL
NSTL
万方数据