MTHFR and Me

In the clinic I am finding an increasing number of women with fertility problems who haven’t been tested for an MTHFR mutation, and it needs to be known that folic acid (synthetic folate) is definitely not the answer for every woman, and in fact, can be quite harmful.

MTHFR is a huge topic, but I’ve chosen to keep it brief to start the education process and cover what is relevant from a prioritisation point of view. Let’s take a closer look.

The Facts

  • An MTHFR gene mutation creates a defective MTHFR enzyme, which is critical for the role of methylation in the body.
  • Commonly, high blood levels of homocysteine are found.
  • An important conversion limitation is folic acid to the active form folinic acid. Those with an MTHFR mutation should not take folic acid as with poor methylation, dangerously high levels can build up in their red blood cells.
  • MTHFR mutation can be managed with adequate nutrition and appropriate supplementation.
  • Methylation is required for:
    – Efficient toxin and heavy metal elimination which decreases inflammation and cancer risk.
    – Efficient conversion of homocysteine to methionine to be used by your body to utilise antioxidants, assist fat breakdown, produce protein and produce SAM-e (s-adenosylmethionine), nature’s anti-depressant.
  • An MTHFR mutation can contribute to:
    – Increased inflammation and free radical damage
    – Fatty liver
    – Irritable Bowel Syndrome (IBS)
    – Anaemia
    – Poor stress response
    – Depression
    – Anxiety
    – Chemical sensitives
    – Miscarriage

The Stats

  • There are two MTHFR genes, C677T and A1298C.
  • 40% of the population have a variant expression in one of the genes.
  • The most common mutation is C677T.
  • One copy of the C677T mutation creates a 35% decrease in methylation.
  • One copy of the C677T and the A1298C (compound heterozygous) creates a 50% decrease in methylation.
  • Two copies of the C677T mutation creates a 70% decrease in methylation. 10% of the population have this variant in the expression of both genes, which may be a severe problem but only if left unmanaged.

The Answer is Not Folic Acid

  • Folic acid is a synthetic form than must be converted to the active L-methylfolate form.
  • As all women are recommended folic acid pre-conception, my advice is that an MTHFR test be conducted first.
  • In the presence of MTHFR mutation, supplement with one of the following active B vitamins:
    * Foilinic acid: bypasses some of the conversion steps and supports healthy methylation and homocysteine metabolism.
    * L-methylfolate: well utilized and best for those with an MTHFR mutation.
  • Other considerations:
    – The enzymes that code for folate production are zinc dependent, so zinc deficiency can contribute.
    – Chemicals or metals such as copper or mercury can block the action of zinc, and further interfere with this process.
    – Treatment is easy with a good dietary intake of folate (read: green leafy vegetables) and supplements such as L-methyfolate and activated B vitamins. Please work with your Nutritionist or Naturopath here to determine your personalised protocol.

What You Need to Do

  • Get tested. We offer full DNA testing, as well as specific blood and swab testing, so please book your Initial Consultation here to become a client of TNN.

The topic of methylation is complex so please refer to the resource list below to learn more.


MTHFR Mutation – Pathology Tests Explained

MTHFR, CBS and COMT Defects and Nutritional Balancing by Dr L Wilson


MTHFR Gene Test


  1. Samantha

    HI Steph,

    I find this topic so interesting, my friend and I were talking about this the other day. I have looked into where you can get the test done as I definitely tick a lot of the boxes. Thank-you so much for writing this piece and getting the word out there Steph, as there is no doubt many women are unaware what MTHFR is and it’s common mutations and symptoms of this. There is a place in Prahran called Vitality Hub, which occupies functional medicine practitioners…have you heard of this place?

    Thanks again Steph 🙂

  2. Steph

    Thanks Samamtha, no I haven’t but I will do my research. I am more than happy to help with your testing. Please email me if you would like to discuss this further.

  3. Natalie

    Hi, I’ve had 4 miscarriages in the last 8 months and I’ve been interested in exploring whether a mthfr mutation could be the cause, but when I asked my Dr about getting tested for it she had no idea what I was talking about. I’m in a small town and my options are pretty limited and I’ve seen a few different drs who all seem to think I’ve just experienced a run of bad luck and haven’t been willing to run more than a couple basic tests.

  4. Angela

    A simple red blood cell folate check can determine if you have a high folate count in your blood. Mine was 1200 and it is now about 700. If yours is high then you are not processing man made folate… You then can ask for the MTHFR Test to find out which mutation you have. It costs about $150. I also had the liver detoxification profile done to find which pathways are blocked.

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