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A subset of patients, however, develops a fatal cerebral demyelinating disease (cerebral ALD)

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Since, we all get one copy of the MTHFR gene from each parent, a person could have any one of the following combinations as well as the problems that go with it: Interpreting 23andme results And its very rare, but some folks can even have 3 mutations (a double mutation in one gene and a single mutation on the other) or conceivably 4 mutations (though Ive not heard of any specific case of this in real life) if they have: Treatment Most cases of MTHFR deficiency are treated with folate supplementation (specifically methylfolate, the most active form of folate in the body), methyl-B12 supplementation, P5P supplementation, and dietary changes