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Hi, I have the MTHFR mutation (homozygous) and I'm convinced it has something to do with my copper metabolism disorder and MDS as well.
I talked to the Prof of Metabolic Medicine I used to see and he dismissed any relationship but I've been suspicious it was linked to MDS even before I knew about my copper problem. If you look at the copper metabolism pathway and the methyltetrahydrofolate pathway they have some cross links.
I wish I was a bit more intelligent so I could grasp some of these concepts.
Chirley
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Copper deficiency bone marrow failure (MDS RAEB 1), neuromyelopathy.
FISH reported normal cytogenetics but gene testing showed
Xq 8.21 mutation
Xq19.36 mutation
Xq21.40. mutation
1p36. Mutation
15q11.2 deletion
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