甲基丙二酸尿症伴高同型半胱氨酸血症患者脑出血一例  

A case of cerebral hemorrhage in patients with methylmalonic aciduria with hyperhomocystinuria

作　　者：徐广印[1] 付庆喜[1] 高乃永[1] 刘举祥[1] Xu Guangyin;Fu Qingxi;Gao Naiyong;Liu Juxiang(Department of Neurology,Linyi People's Hospital, Linyi,Shandong 276000,China)

机构地区：[1]山东省临沂市人民医院神经内四科,276000

出　　处：《中华神经科杂志》2018年第12期987-991,共5页Chinese Journal of Neurology

摘　　要：报道1例晚发型甲基丙二酸尿症(MMA)合并高同型半胱氨酸血症(cblC型),以智能减退、精神异常、行走不稳、生活不能自理为主要表现的患者。该患者继发脑出血,治疗效果较好。通过MMACHC基因检测发现基因缺失突变为1号外显子片段缺失(delExonl),表明delExonl是晚发MMAcblC型的致病原因之一。A case of late-onset methylmalonic aciduria combined with hyperhomocysteinemia (cblC type)is reported.The main manifestations were the reduction of intelligence,the instability of walking,and the inability to take care of oneself,with secondary cerebral hemorrhage.The effect of treatment was good. MMACHC gene mutation detection showed exonl deletion,indicating that delExonl is one of the causes of late onset methylmalonic aciduria,cblC type.

关 键 词：甲基丙二酸 甲基丙二酸单酰CoA变位酶 脑出血 突变 

分 类 号：R743.34[医药卫生—神经病学与精神病学]