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So You’ve Tested Positive for an MTHFR Mutation




It’s the buzz word that has been doing the rounds on the internet for a while.  Everyone’s getting tested for it or are being told to get tested for it.  So that’s what you did.

But then what?  you ask.  Should I take methyl-folate, folinic acid or some other type of folate supplement?  Everyone tells me something different.

Well, I’m here to tell you that it may depend on which snip you have, but mostly it depends on other important factors.

Hang on a minute!  What’s a snip? 

A ‘snip’ is just another word for ‘gene variation’, and you will see it often abbreviated as ‘SNP’.

MTHFR is the abbreviation for methylene-tetrahydrofolate reductase.  We’ll just go with MTHFR for the moment.  Standard blood or saliva testing for MTHFR tests for two potential gene variations:

  • MTHFR C677T, and
  • MTHFR A1298C

If this is what you did then you would have been told that you have either no SNPs, or have one or two SNPs on one or both of them.

Simply it means:

  • MTHFR C677T heterozygous = 1 SNP = mutation on 1 allele
  • MTHFR C677T homozygous = 2 SNPs = mutations on both alleles

The same applies for MTHFR A1298C.

The MTHFR gene codes for the MTHFR enzyme.  Theoretically the more SNPs you have on the MTHFR gene, the slower the MTHFR enzyme is going to work.

Let’s see if I can explain it a bit better.




Yes, it’s similar to driving along a highway.  You know how easy and stress free it is to travel with barely any traffic around.  All the lanes are open, no obstructions, and you can travel at the maximum allowed speed.  This is the equivalent of having no SNPs on MTHFR or any other gene for that matter.  Nutrients and substrates can flow through easily and produce the products it’s supposed to.

Everyone’s happy!

Now imagine that highway being busier.  Maybe people are on their way to the beach, so travel times are a bit slower and the lanes a bit fuller.  This would be the equivalent of having one SNP or being heterozygous MTHFR.

OK, so now you’re stuck in peak hour traffic.  You’re not going anywhere.  The highway has turned into a giant car park.  This is the equivalent of being homozygous MTHFR or having two SNPs on a gene.  The enzyme has limited capacity to move everything through that needs to go through which may lead to a build up of precursors or substrates and a deficiency in end-product.

If things work out you may be able to get off the highway and find an alternate route to your destination.  Your body does this too to some extent.  If enzymes in a pathway are too slow or overwhelmed with too much substrate, other pathways that are working better may be able to pick up the slack and finish the job.  It’s not always ideal, but hey, beggars can’t be choosers.  Problems occur when these other ‘alternate pathways’ are also slow, and this is why some people have more severe symptoms associated with a gene polymorphism than someone else who may have the exact same gene polymorphism.



When you eat food that contains folate – such as leafy green vegetables and eggs – the folate has to go through several steps to end up as an ‘active’ folate called 5-MTHF.  The MTHFR enzyme is the last step in the process to make this active folate.  The slower this enzyme works, the longer it takes to make active folate, and this can slow the whole methylation cycle down.

Let’s put it this way.  Methylation is like a factory.  The methylation factory makes toys such as SAMe, biopterin, glutathione and purine bases.  Selling these toys gives you energy, neurotransmitters, hormones, DNA and RNA (to name a few).  So it’s in your best interest to make plenty of good quality ‘toys’.  In order to put these ‘toys’ together you need to have all the parts in the correct order moving along a conveyer belt in a perfectly timed manner to ensure for a fast assembly and minimal mistakes.

Makes sense, right?

This keeps the production line moving forward and prevents defective ‘toys’ from either being send back or ending up in the dumpster.

The folate cycle is the very first part of this.  Once you eat food you are putting dietary folate on the conveyer belt to start off the process.  If the worker responsible for the first assembly had a rough night or is just not a hard worker, then it slows down the whole production line, no matter that the rest of the workers are pumped and ready to go.

And it’s not just MTHFR.  Any worker anywhere in the line can slow things down.

Likewise, if you are not eating foods high in natural dietary folates, or eating more processed foods containing fortified folic acid, then the factory workers don’t really have much to work with, do they.  You’ve got to give them good quality materials to make good quality products.

Mmm….OK, how does this puzzle piece fit into my health journey?

Well, let’s look at some of the most common symptoms associated with MTHFR.  See if you recognize any of them.


OK, got it!  Now that I know I have an MTHFR SNP, and I understand what it does, and recognize some of the symptoms in myself, what do I do about it?




The simple answer is to take some methyl folate supplements in the form of 5-MTHF or folinic acid.  But I rarely see ‘simple answer’ clients.  In fact the most common complaint I get is from people who’ve come from other practitioners (well-meaning of course) who has put them on active folate supplements or even large amounts of combinations of supplements that has made them feel really unwell.  Or they’ve landed on an MTHFR forum where they were given advice on what to take because it worked for THAT person.  Understand that you are not that person and your genetics, lifestyle and biochemistry will look completely different to the person’s genetics, lifestyle and biochemistry who is giving the advice (again, well-meaning).

For this reason I’m not going to tell you what supplement to take because I do not believe it will be in your best interest without knowing more about you.  You are, after all, unique!  This doesn’t mean there isn’t anything for you to do.

The suggestions I make in our free ebook ‘Are Your Genes Your Destiny’ should form the bases of any program that someone with an MTHFR polymorphism or other gene polymorphisms follows.

This may sound very basic, but trust me, it’s often the simple stuff that makes the biggest difference.  No amount of supplements in the world is going to help if the basics aren’t covered.




Does this mean it was all a waste of time getting tested for MTHFR?

Not at all.

Now you know there is another clue to investigate further.  This could mean taking the next step and ordering a more comprehensive gene test such as 23andme and StrateGene if you want to go futher down that rabbit hole.  There are many companies doing comprehensive gene testing these days but remember to stick with the good ones.

This is the point I’m trying to get across.  MTHFR is ONE gene.  One gene that is surrounded by many other genes that are just as important and will also influence how MTHFR works.  Remember the highway analogy and finding an alternate route?  And the factory analogy with all the workers having to be on board?

You don’t even have to do any gene testing.  An experienced practitioner should be able to look at your symptoms and other functional tests you may have had done and have a pretty good idea which pathways or enzymes may need a bit of help.

Image reproduced from an article originally published by Focus for Health.

Join the discussion 4 Comments

  • Margaret Fetter Margaret Fetter says:

    Your description of MTHFR is very helpful. In my recent research I learned that if you have the MTHFR gene and B12 & B6 are high in your bloodwork you are actually deficient. A better way of testing B12 is by measuring the B12 levels in the kidneys. This can be done by a Vitamin B12 binding capacity unsaturated (Quest test code # 928). Do you agree? Therefore B12 shots might be better for you than or oral supplement. What about B12 compounded nasal sprays?

    • Thank you Margaret :).
      You are correct that B12 and B6 can be high on bloodwork if an MTHFR genetic SNP is being expressed. Another really good marker is homocysteine which can be high. Keep in mind there may also be other reasons for all of these markers to be high.
      Vitamin B12 binding capacity (transcobalamin) would indeed be a good measurement for potential B12 deficiency. MCV can also provide insight into functional B12 deficiency. Other markers would be MMA in bloodwork or an organic acid test. Serum B12 is not a very accurate marker.
      B12 in all forms (shots, oral, nasal spray) can be beneficial as long as it’s in the bioavailable forms of hydroxocobalamin, adenosylcobalamin or methylcobalamin, and not synthetic cyanocobalamin. Oral forms are often in lozenges which is absorbed in the mouth as opposed to the small intestine where food-B12 is absorbed attached to transcobalamin transporters. However, some people respond better to certain forms and delivery methods, so definitely experiment if B12 levels fail to respond to what you are doing.

  • Taylea Taylea says:

    Thankyou so much for this valuable information.
    I am reading alot of different reasons for the list of symptoms . Brain fog, fatigue, anxiety . They could be related to a host of other issues like candida, parasites , CFS viruses, MTFHR . It’s fascinating in a sense that the body seems to respond similarly.
    What test is best to find out the true cause? Thankyou for all your hard work Elizma

    • Thanks Taylea for your reply. You are absolutely correct. There are many reasons for these symptoms. When you experience a wide range of symptoms like this, it’s important to find the root cause. Depending on your symptoms you may want to do a stool test to check for gut dysbiosis, a hormone test to check cortisol, DHEA and other hormone levels, check for mold, or other environmental chemicals. It really depends on a person’s personal history. But all of these things can affect MTHFR enzyme function in a direct or indirect way.

      Always look for the root cause.

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