2例甲基丙二酸尿症患儿的临床和致病基因突变研究

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Abstract Methylmalonie aciduria(MMA)is a rare inherited metabolic disease in childhood.In this study,the clinical characteristics were analyzed and the gene mutations were detected by next-generation sequencing(NGS)in two infants who were diagnosed clinically as MMA.The mutations identified by NGS were verified by Sanger sequencing.Writers found that the clinical symptoms included feeding difficulties,poor psychosis etc..In two cases of MMA,compound heterozygous mutations in MMACHC gene was detected in case 1 and case 2 respectively.Case 1 had c.394C>T(p.R132X) and c.609G>A(p.W203X)mutation,and Case 2 had c.567dupT(p.R189fs)mutation and c.609G>A(p.W203X)mutation in MMACHC gene.Both of 2 cases were diagnosed as cblC subtype.

Key words： Methylmalonic aciduria Clinical characteristics Gene mutation

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	REN Guang-fang
	ZHANG Hao-zheng
	WANG Dong

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REN Guang-fang,ZHANG Hao-zheng,WANG Dong. The clinical characteristics and the pathogenic gene mutations in two infants with methylmalonie aciduria[J]. 中国当代医药, 2016, 23(31): 104-106.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2016/V23/I31/104

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