Cobalamin and its metabolites play a crucial role in DNA synthesis and cellular energy metabolism. Disorders of cobalamin metabolism are rate, autosomal recessive, conditions that present with neurological dsyfunction of varying severity.
Kandula, T., Peters, H. L., & Fahey, M. C. (2014). Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment. Journal of Clinical Neuroscience, 21(10), 1815 - 1817. https://doi.org/10.1016/j.jocn.2013.12.030