Hyperhomocysteinemia with MTHFR C677T mutations. Does anyone have this

Hello @ronniekep

Welcome to Mayo Connect! You have posted a very interesting topic, Hyperhomocysteinemia with MTHFR C677T mutations. While I have never heard of this before I did find some information on Mayo Clinic's website. Please click on the link and take a look at it, https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/81648

If you are comfortable sharing more about this discovery could you explain why the DNA test was done? Was it at your doctor's suggestion or something you did on your own? Were you having particular health problems that led you to do the DNA testing other than to discover what meds you could take or not?

Hi,
I have Scleroderma and have been seeing a wonderful nutritionist who offers DNA testing as well as other labs. After seeing her for almost 3 years, she has helped me immensely with going Gluten Free and Dairy Free. I have made a complete lifestyle change due to her and started suffering depression in March 2018. I have been seeing a psychiatrist for slight anxiety and was taking Cymbalta 60mg, for anxiety, pain and migraines. In August the depression seemed to have gotten worse and realized maybe the Cymbalta was not doing its job. I decided to take the DNA test to find out Meds would work out best for me and then found out I carry this gene.

I appreciate you sharing your background, @ronniekep. I am glad to hear that the nutritionist has helped you with your Scleroderma. I know of friends who also have this disorder and it can be difficult to control.

If you had an opportunity to look at the Mayo website article, do you see any similarities to how you are feeling with some of the information provided there (or perhaps with a family member)?

Do you plan to do any other follow up as a result of this finding?

i found out today i have MTHFR C677T AND MTHFRA1298C I have no idea what that means! Any help would be great 🙂

Hi, @msfxit - welcome to Connect. Was this information on MTHFR C677T AND MTHFRA1298C something that you found in your medical records or also something presented to you at an appointment? Is there a doctor you are seeing who might provide some further interpretation?

C677THi my gyno ordered the tests for myself and my daughter we both have C677T and I also have A1298C

Hi, @msfxit - sure. Did the gynecologist say what that meant for you and your daughter?

Hi, my wife and her three daughters have this. she had done a lot of research and her eating habits have changed drastically in not eating any foods with enriched flour or anything enriched. She has the double gene mutation. A lot of people are helped by following the gluten free diet since it eliminates enriched food from her diet but it is the enriched part that is an issue not the gluten. If you google MTFHR, there are many references and places to read. Most doctors do not know about this. She was diagnosed at Johns Hopkins in Baltimore. She has found one person who works in a local pharmacy that has been a great help in knowing what to do. Avoid folic acid which is a lot of what is in enriched food items. You want the natural folate not the synthetic folic acid. The natural folate will be absorbed by your body but the folic acid will not be absorbed since the MTFHR gene will block it. This is an on going issue and she would be happy to talk to you more about this. Symptoms were exhaustion and her body felt like it was trying to kill her but her blood tests came back ok but the nutrients in the blood were not being absorbed by the body. An "extreme" blood test is needed to determine what is being absorbed by the body not just what is in the blood. MTFHR is genetic and can be passed down to kids. This problem can also have significant implications for women interested in having children. doctordoni.com has articles on this and to search. Let me know any other questions.

Here is some further information about Methylenetetrahydrofolate Reductase (MTHFR) Deficiency that may be useful: https://www.ncbi.nlm.nih.gov/books/NBK66131/

He put us both on Folinic Acid 500 per day. We both have migraines with aura anemia lethargic and I have narcolepsy also. We took our first dose yesterday I was fine but I ended up taking my daughter to hospital she had an allergic reaction. Her throat closed up and she got an itchy rash