甲基丙二酸血症cblA型12例分析
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2020)
Abstract
目的 探讨甲基丙二酸血症(methylmalonic acidemia,MMA) cblA型患儿的临床特点、基因变异类型及治疗效果.方法 分析12例cblA型MMA患儿的临床表现,治疗方案及预后,对先证者及其父母进行MMAA基因的变异分析.结果 MMA cblA型患儿主要表现为呕吐、气促和嗜睡.维生素B12治疗对11例(91.7%)患儿有效.治疗后患儿血丙酰肉碱、丙酰肉碱与乙酰肉碱比值、尿甲基丙二酸及甲基枸橼酸水平均显著降低,差异有统计学意义(均P< 0.05).8例患儿生长发育正常(66.7%),4例智力运动发育落后(33.3%).检测到14种MMAA基因变异,包括6种新变异:c.54delA(p.A19Hfs* 43)、c.275G>A(p.G92V)、c.456delT(p.G153Vfs*8)、c.667dupA(p.T223Nfs*4)、c.1114C>T(p.Q372X)和c.1137_1138delCA(p.F379Lfs* 27).最常见的变异为c.365T>C(p.L122P) (29.2%).结论 cblA型MMA患儿主要表现为呕吐、气促和嗜睡,大部分患儿为维生素B12治疗有效型.c.365T>C为中国MMAA基因的常见变异.
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Key words
Methylmalonic acidemia,MMAA gene,Propionylcarnitine,Methylmalonic acid
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