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. Key words: Methylmalonic acid; Methylmalonyl-CoA mutase; Cerebral hemorrhage; Mutation
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