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目的研究串联质谱技术在儿科遗传代谢病筛查中的价值。方法对132例疑似遗传代谢病患儿采用串联质谱(Tandem mass spectrum,MS/MS)及气相色谱/质谱(Gas chromatography/Mass spectrometry,GC/MS)技术进行遗传代谢性疾病的筛检。结果 132例患儿中确诊为先天性遗传代谢病者分别为高苯丙氨酸血症35例,线粒体能量代谢障碍2例,二羧酸尿症2例,甲基丙二酸血症2例,丙酸血症1例,鸟氨酸氨甲酰基转移酶缺乏症(OTCD)1例。OTCD先证者及其父母作了基因测序,先证者检出c.626C>T(p.A209V)突变基因,其母孕二胎时产前作了羊水及细胞培养基因分析未见突变基因,产后婴儿作了MS/MS、GC/MS分析未见异常。结论串联质谱技术可分析代谢物质浓度水平,可对遗传代谢病进行筛查,有利于临床确诊病因,减少医疗纠纷发生,对再生育者进行产前筛查有利于优生优育,值得推广应用。
Objective To study the value of tandem mass spectrometry in the screening of pediatric inherited metabolic diseases. Methods A total of 132 children with suspected genetic and metabolic diseases were enrolled in this study. Genetic metabolic diseases were screened by tandem mass spectrometry (MS / MS) and gas chromatography / mass spectrometry (GC / MS). Results Of the 132 children with congenital hereditary metabolic diseases, 35 were hyperphenylalaninemia, 2 were energy metabolism disorders in mitochondria, 2 were dicarboxylic aciduria, 2 were methylmalonic acidosis , 1 case of propionic acidemia and 1 case of ornithine carbamoyltransferase deficiency (OTCD). OTCD probands and their parents made a gene sequencing, probands detected c.626C> T (p.A209V) mutation gene, the second prenatal mothers made prenatal amniotic fluid and cell culture gene analysis showed no mutant gene , Postpartum infants made MS / MS, GC / MS analysis showed no abnormalities. Conclusions Tandem mass spectrometry (MS) technique can analyze the concentration of metabolites, screen for genetic metabolic diseases, facilitate the diagnosis of clinical etiology and reduce the occurrence of medical disputes. Prenatal screening for re-breeders is beneficial to prenatal and postnatal care and is worthy of promotion and application.