MTHFR mutation - but normal Folate?

darlenesommerville

13 Posts
Reply Posted on: Jul 5, 2012 at 3:10pm
Hello Dr. B. My husband and I will be consulting with you soon. I have a question about the mthfr a1298c mutation that I'm hoping you can answer before our consult.

I am homozygous for mthfr a1298c. I had my folate & B12 levels tested. My B12 is very low, but my folate is normal.

My research has suggested that the homozygous mthfr a1298c mutation causes very low folate levels because the mutation doesn't allow folate to be processed correctly. Yet, my folate is normal.

So here are my questions:

- Since my folate is normal, does that suggest that my homocysteine is also normal (since apparently elevated homocysteine is what causes low folate)?
- Would it be a good idea (in your opinion) to have my homocysteine levels tested just to make sure they aren't abnormally high?
- Since my folate is normal, would Metanx still be needed to treat my mthfr a1298c homozygous mutation? Or would that no longer be necessary?

Thank you so much for this!

Dr. Braverman

2005 Posts
RE: MTHFR mutation - but normal Folate? Posted on: Jul 5, 2012 at 6:51pm
yes it would be a good idea to check the homocystiene level , Metanx has been shown to be useful even when homocysteine levels are normal One study showed a hight rate of genetic abnormalilites in women homozygous for the A12C mutation, that did not suppplement with Folic acid.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Dr. Braverman

2005 Posts
RE: MTHFR mutation - but normal Folate? Posted on: Jul 5, 2012 at 6:52pm
yes it would be a good idea to check the homocystiene level , Metanx has been shown to be useful even when homocysteine levels are normal One study showed a hight rate of genetic abnormalilites in women homozygous for the A12C mutation, that did not suppplement with Folic acid.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.