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From a clinical perspective, if blood tests reveal isolated B12 deficiency, a standalone B12 supplement or prescribed treatment would be the appropriate intervention

Clinical disability was evaluated according to the Extended Disability Status Scale (EDSS)

Beyond mutations in the genes coding for these intracellular cobalamin proteins, there are also multiple mutations which affect the transcriptional regulation of MMACHC, leading to a similar phenotype of CblC deficiency (Watkins et al., 2017)