What is MTHFR and How to Know If You Have It

By Dr Olivia Naturals Support • September 06, 2016

The methylenetetrahydrofolate reductase (MTHFR) mutation is a genetic mutation that affects about 40% of the population. Sometimes symptoms are hardly noticeable, but other times, they are highly prevalent. In many cases, MTHFR can look like something else, so it is up to you to decide if you should be tested or not. 

The video above talks about MTHFR mutation, but the content below expands upon it. Be sure to check them both out!

What is MTHFR?

Normally, MTHFR facilitates methylation, which is a metabolic process that repairs DNA. It forms proteins and helps with a number of other functions in the body like keeping cholesterol levels balanced, process B9 vitamin, eliminate toxins through the GI tract, and even helps with the production of serotonin, a vital hormone in your body.

  • Keeping cholesterol levels balanced
  • Process B9 vitamin
  • Eliminate toxins through the GI tract
  • Production of serotonin, a vital hormone in your body.

Now before we go further, it is important for you to know that MTHFR mutation is inherited. You can't simply pick it up. 

So the mutation disrupts a number of these functions in the body, but the damages can be more harmful, and potentially long-lasting. 

When you have MTHFR, your body cannot methylate folic acid into methylfolate. To provide context, our bodies do not use folic acid because it is not the natural or bioavailable form of the vitamin that our brain uses, its folate. So if you take folic acid your body has to convert that to folate.

MTHFR mutation:

I had a patient come to see me and told me that she had had a stroke; she had three MRIs done to confirm it because she had no symptoms. She didn't feel a stroke, she has no effects to even show that she had one, and they keep trying to figure out what caused it. Her heart is fine, her arteries are clear, they cannot find any known cause, so I started talking to her about her history. She tells me she has had a miscarriage, she had struggled with infertility, and pretty much everybody in her family has either had a stroke, a blood clot or has dementia. 

Turns out, she had been diagnosed with MTHFR 15 years ago and was prescribed Folgard, a prescription folic acid. 

15 years ago, MTHFR was not a common focus, and many doctors did not know that your body could not methylate folic acid. These days, folic acid is in most of our processed foods, and when you have MTHFR, it builds up in your system and creates inflammation, which is depicted by a high homocysteine level. 


If you are exhibiting any of the symptoms below or recognize them in family members, it's up to you to talk to your doctor and order a blood test. 

  • Autism, or other childhood learning development problems,
  • ADHD
  • Addictions (alcohol and drug)
  • Infertility
  • Miscarriage
  • Chronic fatigue
  • Stroke
  • Blood clots
  • Dementia

Not only these, but methylation is part of the detoxification pathway, and if you cannot methylate, you cannot detoxify properly. There are many functions that your genes are responsible for, such as sulfation, vitamin D absorption, sex hormone production, and neurotransmitter formation. If you are noticing that you have any of these symptoms, please get tested. 


How to get tested:

If you want to get genetic testing, the easiest way is to go to 23andme.com and order yourself a genetic test. It's only $200. If you were to come in to the doctor and have them order it, it would cost around $2000. So trust me, this way is much better. The only problem is you might not know how to interpret the results, but you can find a health care practitioner who has a background in genomics, genomic testing, functional medicine and integrative medicine, and they'll be able to help you decipher those results. 

The Results

Once you find out you have been diagnosed with MTHFR mutation, you may feel overwhelmed, but don't! It is plenty manageable, and you will be feeling good in no time, as soon as you adjust your diet and lifestyle. 

The first thing to do is start taking the methyl form of folate with the methyl form of B12. Then you can start working with your health care practitioner on a diet and lifestyle plan that works for you.