Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

Sheng-Nan WuHui-Shu EYue YuShi-Ying LingLi-Li LiangWen-Juan QiuHui-Wen ZhangRui-Xue ShuaiHai-Yan WeiChi-Ju YangPeng XuXi-Gui ChenHui ZouJi-Zhen FengTing-Ting NiuHai-Li HuKai-Chuang ZhangDe-Yun LuZhu-Wen GongXia ZhanWen-Jun JiXue-Fan GuYong-Xing ChenLian-Shu Han

Published in: World journal of pediatrics : WJP (2023)

The c.482G > A variant in MMACHC is associated with late-onset and milder phenotypes of CblC disease. Patients with this mutation tend to have a relatively better response to hydroxocobalamin, better metabolic control, and more favorable neurological outcomes. NBS and other appropriate pre-symptomatic treatments seem to be helpful in early diagnosis, resulting in favorable clinical outcomes. Video Abstract (MP4 136794 kb).

Keyphrases

late onset
early onset
insulin resistance
brain injury
cerebral ischemia