Variable phenotypes and outcomes associated with the MMACHC c.482G & gt; A mutation: follow-up in a large CblC disease cohort
CONCLUSIONS: 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).PMID:38070096 | DOI:10.1007/s12519-023-00770-2
Source: World Journal of Pediatrics : WJP - Category: Pediatrics Authors: Sheng-Nan Wu Hui-Shu E Yue Yu Shi-Ying Ling Li-Li Liang Wen-Juan Qiu Hui-Wen Zhang Rui-Xue Shuai Hai-Yan Wei Chi-Ju Yang Peng Xu Xi-Gui Chen Hui Zou Ji-Zhen Feng Ting-Ting Niu Hai-Li Hu Kai-Chuang Zhang De-Yun Lu Zhu-Wen Gong Xia Zhan Wen-Jun Ji Xue-Fan G Source Type: research
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