首页|甲基丙二酸血症变位酶缺乏的筛查、诊断与临床表型分析

甲基丙二酸血症变位酶缺乏的筛查、诊断与临床表型分析

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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.
Screening,diagnosis and clinical phenotype analysis of mut type methylmalonic academia
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.

neonatal disease screeningmethylmalonic acidgenetic variationmut

许佳、李雨雨、李洪俞、牟凯

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淄博市妇幼保健院医学遗传科,山东淄博 255000

新生儿疾病筛查 甲基丙二酸血症 基因变异 mut

山东省医药卫生科技发展计划淄博市医药卫生科研项目

20211100022520231800131

2024

中国优生与遗传杂志
中国优生科学协会

中国优生与遗传杂志

CSTPCD
影响因子:0.527
ISSN:1006-9534
年,卷(期):2024.32(1)
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