A case of cerebral hemorrhage in patients with methylmalonic aciduria with hyperhomocystinuria
10.3760/cma.j.issn.1006-7876.2018.12.010
- VernacularTitle:甲基丙二酸尿症伴高同型半胱氨酸血症患者脑出血一例
- Author:
Guangyin XU
1
;
Qingxi FU
;
Naiyong GAO
;
Juxiang LIU
Author Information
1. 276000,山东省临沂市人民医院神经内四科
- Keywords:
Methylmalonic acid;
Methylmalonyl-CoA mutase;
Cerebral hemorrhage;
Mutation
- From:
Chinese Journal of Neurology
2018;51(12):987-991
- CountryChina
- Language:Chinese
-
Abstract:
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 exon1 deletion, indicating that delExon1 is one of the causes of late onset methylmalonic aciduria, cblC type.
