MTHFR and fertility.

I wanted to delve into the topic of MTHFR and fertility. I regularly get women contacting me all stressed out about whether it’s affecting them negatively. By becoming educated on what it is, you will be able to calmly make a plan to deal with it. That way we aren’t letting it create added stress on top of the usual fertility woes.

What is MTHFR?

Let’s break it down with a bit of a science chat first. MTHFR stands for methylenetetrahydrofolate reductase, and it’s a gene that’s responsible for an enzyme reaction in your methylation pathway. Methylation is just one of those things our body is constantly doing without us having to worry about. Folate is required for methylation to work correctly. When methylation isn’t working it can lead to a few problems. These can include infertility, blood clotting disorders, mood disorders, and recurrent miscarriage.

Roughly 20% of people have a variation in their MTHFR genes that limit how effectively the enzymes can process folate. As such, the above problems may occur. But don’t despair, it’s actually quite easily managed. Let’s look at how.

How to check whether you are affected.

You could have your MTHFR gene tested directly by getting a gene test. Alternatively, or additionally, you could get your doctor to check your homocysteine levels. If your homocysteine levels were elevated, it’s a sign that methylation isn’t working correctly. Therefore, you might be experiencing negative impacts.

What to do about elevated homocysteine.

If your homocysteine blood test comes back elevated, then we need to work on getting those levels down. This can be achieved by taking bioactive versions of folate. Most vitamins contain folic acid, which is a synthetic version of folate that is hard for the body to utilise. If you buy supplements with the active versions, folinic acid and methylfolate, your body can utilise them in methylation. Essentially, problem solved!

Clinically, I find this usually takes a couple of months to fix, but the levels do slowly come down.

If your levels are fine but you know you have a MTHFR defect, it’s still a good idea to take the active versions of folate just in case. However, the good news is that your methylation is probably working just fine.


In conclusion, I hope you now feel a bit more confident in your understanding of how MTHFR defects impact the body, and specifically the impact of MTHFR and fertility. Knowledge is power, and it helps to keep us calm during the stresses of trying to conceive or early pregnancy.

If you would like help managing your methylation or conception journey, I would love to be involved. Appointments can be made online to see me in either of my Sydney clinics, as well as secure video link from anywhere in the world. My signature online program, Supercharge Your Fertility, is available to start any time at your leisure. Click here to get instant access.

Image credit: Bioceuticals