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: Source Type: research