Treatment for MTHFR Mutation: What is it & How to Treat it?

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Treatment for MTHFR mutationTreatment for MTHFR mutation is a lot simpler than it’s name!

MTHFR gene is in charge of Methylenetetrahydrofolate reductase (MTHFR) an enzyme responsible for folic acid metabolism in the body. In this article we’ll look at the function of this enzyme, why it’s important for fertility and the standard treatment for MTHFR mutation.

Genetics can be quite complicated and the terminology confusing so I’ll stick to the layman’s terms to explain what’s going on in the body if you have this mutation.

Polymorphisms (changes) of this gene can result in MTHFR enzyme malfunction and improper use of folic acid by the cells.

Folic acid plays an incredible number of roles in body including formation of red blood cells, DNA transcribing, protein production, cellular energy production and metabolism (Krebs cycle), works closely with B12 and other B vitamins in hundreds of cellular processes and the list does not end here.

As you may be aware folic acid is crucial for fertility, miscarriage prevention, formation of your baby’s organs during the crucial first trimester of your pregnancy, when so called organogenesis – organ formation – takes place. Neural tube defect is just one of the many malformations which can result from inadequate folic acid intake.

However if you have MTHFR gene mutation normal intake of folic acid will not be enough!

It is estimated that approximately 30%-40% of the population have a malfunctioning MTHFR gene. Some have it on both chromosomes and most on just one chromosome. This mutation predisposes you to chronic conditions later in life as result of homocysteine accumulation. Homocysteine is a free radical our body produces as a result of cellular metabolism – the Krebs cycle. It is also one of the most toxic free radical for our body.

Folic acid helps break it down to a water-soluble state which can easily be excreted via faeces and urine. But when you can’t utilize folic acid properly homocysteine accumulates in the cells and predisposes you to cardiovascular conditions, recurrent miscarriages, congenital malformations in the baby if you are pregnant, implantation issues, blood clotting issues, cancer etc…

Treatment for MTHFR Mutation

  1. First have yourself and your partner tested. If you test positive, read on, if you test negative, stick to recommended dose of 800 micrograms of folic acid per day.
  2. If you tested positive for MTHFR gene polymorphism you will need follow the treatment for MTHFR mutation: start taking 1-5 mg of folic acid a day. Methylated form is best (5-MTHF). As folic acid works closely with B12 you will need to increase your dose of B12 as well. Most high dose folic acid preparations already are combined with B12. You will need a prescription for such a high dose of folic acid and your doctor who performed the test will be able to write you a script for it.
  3. To prevent miscarriages make sure to take 1-5mg of folic acid for at least 120 days prior to conception to ensure the batch of eggs you’ll be trying to conceive  with has been developing in healthy conditions.
  4. Depending on your medical and family history you may or may not need to stay on such high does of folic acid for the rest of your life. Your doctor can discuss this with you. And just because this is what is currently being prescribed as a treatment for MTHFR mutation does not mean the treatment will stay the same in 10 years. Always keep researching and looking for the latest advancements in science. Nothing changes more rapidly than the scientific discoveries!

I’m happy to say that I have been able to successfully treat recurrent miscarriages when the underlying cause was MTHFR gene mutation with high doses of folic acid.

Please share your thoughts on treatment for MTHFR mutation with me. Do you have it? Are you taking high doses of folic acid daily? Did it have a positive outcome on your pregnancy? Are you familiar with any other treatments for MTHFR mutation? Would love to hear from you!

Further reading: http://ghr.nlm.nih.gov/gene/MTHFR

© 2013 Iva Keene and Natural Fertility Prescription

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About Iva Keene MRMed. ND.

Iva Keene is an internationally recognized natural fertility specialist and naturopathic physician who has helped thousands of couples with fertility problems on their path to pregnancy.
This entry was posted in Female Fertility, Male Fertility, Preconception Care. Bookmark the permalink.

7 Responses to Treatment for MTHFR Mutation: What is it & How to Treat it?

  1. Marya says:

    I have the MTHFR gene mutation C677T. It is heterozygous.
    My homocysteine levels are normal.
    I had my folic acid and B12 levels also tested and they also came back normal (folic acid was 46 pmol/L – normal values according to lab range from 7 to 36; B12 was 416 pmol/L – normal values are 156-672).
    I have received contradictory advice regarding the intake of folic acid. What do you recommend?

  2. Marya says:

    I have the MTHFR gene mutation C677T. It is heterozygous.
    My homocysteine levels are normal.
    I had my folic acid and B12 levels also tested and they also came back normal (folic acid was 46 pmol/L – normal values according to lab range from 7 to 36; B12 was 416 pmol/L – normal values are 156-672).
    I have received contradictory advice regarding the intake of folic acid. What do you recommend?

    • Iva Keene MRepMed. ND. says:

      If you suffer from recurrent miscarriages or can’t get pregnant you should supplement with methylated folic acid.
      Studies show even when homocysteine levels are not raised presence of MTHFR mutation can predispose to miscarriages.

  3. Lina says:

    Hello, Iva!
    My husband has azoospermia, his hormones are all normal, no infections, cariotyping normal, no Y chromosome deletion. We tried IVF with TESA, but no sperm were found (just few, no moving). After treatment with Gonal for 3 months, another TESA showed the same results.
    Recently he was diagnosed with MTHFR mutation (c677t). Could this be the cause of our infertility?? Can we still have the hope? He also has left side varicocele, but doctors don’t recomend operation for fertility.
    Thank you, for your grate website, i have learned a lot!

    • Iva Keene MRepMed. ND. says:

      Thanks Lina! :)

      Yes, absolutely, MTHFR gene polymorphism can contribute to sperm abnormalities and DNA fragmentation. However it would be wise to do a thorough analysis to exclude any other potential toxicities or immune abnormalities. I suggest that you schedule a phone consultation with me so that I may analyze your case properly. I look forward to speaking to you soon. Warm regards, Iva

  4. shana says:

    Hello Iva! Thanks so much for your helpful information. I have a few questions. My husband and I have struggled with infertility for 2 years. We had one miscarriage at 4.5 weeks. I was diagnosed about three months ago with compound heterozygous mthfr, after my own gut instincts felt that there was more to our troubles than just “unexplained infertility”. His semen analysis was normal….other than morphology was borderline at 30%. I have read varying opinions on whether or not mthfr can lead to infertility. If mthfr can cause folate deficiency, and folate deficiency can lead to infertility, arent the two then related?

    Also…ive been on methlayted folate and baby aspirin for 3 months and still no success with conceiving. I was hoping after supplementing to “fix” mthfr, id be pregnant by now. No such luck. Now im worried that the mthfr wasnt such a helpful find in fixing our infertility after all.

    I was also diagnosed 9 months ago with a low amh level 0.8 (im 28 years old). Could mthfr have caused this, as amh relates to egg production? Im hoping amh may go up now that im treating mthfr.
    Thanks in advance!!

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