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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)

Bibcode:2004PNAS..101.3729E

The Hidden Risks of Vitamin B12 Replacement Therapy Thai Pham January 05, 2025 Vitamin B12 (cobalamin) is a crucial nutrient essential for various bodily functions, including DNA synthesis, red blood cell production, and proper nerve function

If you have these symptoms, consult a doctor and get tested for B12 deficiency