Crash Course on MTHFR

I’ve mentioned MTHFR a few times and I will be curious to see what if anything changes on the hair test this year since we’ve been addressing MTHFR for a year now. In light of that I don’t think anyone should get lost in treating methylation but I think it is part of the whole picture so I’ve decided to do a brief post on it.

What is MTHFR? A gene that is supposed to make an enzyme to convert folic acid into methylfolate. In people with MTHFR variants C667T or A1298C this process isn’t happening efficiently due to an improperly made enzyme. The gene is the instructions to make the enzyme but in this case it produces an inadequate enzyme. Basically the gene code isn’t set up to make a fully usable enzyme for this process. It works to a certain percent but this is not adequate enough and may lead to methylfolate deficiency.

So why is this a problem? The problem is you need methylfolate for your methylation cycle which is responsible for enzymes for all sorts of processes in the cells. We need it to make brain chemicals, immune cells, hormones, assist with detoxifying chemicals or metals, and to make energy in our cells. (ATP production) Methylation is also needed for RNA and DNA repair and production, It’s repairing genes and making sure they duplicate correctly. It seems this enzyme to convert folic acid to methylfolate is really important.

So where did things go wrong? We seem to have run into a problem when governments decided to add folic acid to all our processed flour in order to prevent neural tube defects. While it’s been helpful for preventing neural defects it may have become a problem for people with MTHFR variants since they aren’t efficient at processing synthetic folic acid.  This may lead to folate deficiency/ Without it the methylation cycle will slow down. This may increase risk to some people for health issues.  In autism it seems to create a susceptibility to heavy metals. While the methylation thing is actually more complex than this, I realize most of us are not biologists so I’m trying to keep it simple.

We have MTHFR, now what? There isn’t any reason to panic if you do have MTHFR variants because it’s easily treated with a few supplements in the right forms to get those methylation wheels spinning and to avoid folate or MB12 deficiency. The solution is to not rely on the enzyme your MTHFR gene is making because it’s not working at 100%. Skip the enzyme by giving the body already made folinic/folate and methylcobalmin.

Some people seem to benefit from P5P, TMG (methyl donors) or other forms of B12 but this is something that requires trial and error to figure out what works best for that individual. The key is start only ONE thing at a time, start a low dose and see how things go.

I do note that some people do have issues with methylfolate and may not need to take it every day. We ran into this issue after several months on it.

What about chelation? I have often heard it from others who were told that they could not chelate or detoxify until they addressed methylation. I don’t think it’s a bad idea to address methylation (it can’t really hurt) but the clarification that needs to happen here is when you chelate using Andy Cutler chelation, you are not relying on the body’s own detoxification system to remove metals.  You are going around that system using chelators to bind and take metals out. Many of us have chelated extensively and improved and later found out we had MTHFR. Having it is not a contraindicated to chelation on the Andy Cutler chelation protocol.  If you know your child has MTHFR, treat it and chelate. If you don’t know and they have autism, treating it anyway isn’t a bad idea. You could always test for it later on if you feel the need and the testing would not be affected by having already treated it.

Can we test for MB12 deficiency? Yes but not using the standard serum B12 testing that doctors normally run. This test will find a few cases of B12 anemia when the B12 comes up low. However, with MTHFR many of us come up high on serum B12 testing and there is a reason for that. It means many of us are actually MB12 deficient and it’s being missed because it’s mistakenly assumed we are high when we aren’t. Serum B12 measures synthetic B12, unusable B12 and it may pick up folic acid in the blood too. It tells you nothing about B12 status unless it’s actually low. B12 testing explained.

Since this is just a crash course, I’ve only touched on MTHFR very lightly with some basic information so you can decided what, if anything, you wish to do about it. The key is not to over focus on this as a cause of everything else. Treating it does not fix most issues in autism but it certainly doesn’t hurt to treat it and it in many cases it is very helpful.


Methylfolate experiment

After getting the MTHFR testing back we began methylfolate and P5P. He had already been on methylcobalmin for probably a year which was helpful. Initially he complained that after he took his Methylfolate/P5P supplement it made him have to pee. I haven’t heard this complaint in a while so I think that stopped.

Lately he’s been really irritable, beyond what is normal for him.  He’s just not himself at all. He’s been very argumentative and doesn’t want to do anything, even things he normally likes. He was obviously feeling bad and I couldn’t figure out why.

It dawned me on two days ago…what about the methylation supplements?!?!?

I did not respond well to methylfolate but he seemed just fine when we started it. So I assumed we were go to continue giving it to him. That was some 9 months ago but what if what’s good then isn’t good now? What if he had built up his levels and didn’t need it now?

I began searching the web and found an article by Ben Lynch describing the problems some people have with methylfolate. He talks about how someone could do well initially and then it can all fall apart later on.

So on a hunch I stopped giving his morning 800 mcg methyfolate supplement. Guess what? He is back to himself!!

He is still taking his MB12 because he was on that prior to the methylfolate and did well on it for over a year.

His CBC blood work is indicating he is not B12 anemic anymore…hmm..perhaps he doesn’t need as much folate like Ben said. Ben suggests that it might not need to given daily in some people. So we’ll take a break and then in a few months, give it just a few times a week at a lower dose.

You have a Mother what mutation?

Metabolism of folic acid. The role of Vitamin ...

Metabolism of folic acid. The role of Vitamin B 12 is seen at bottom-left. (Photo credit: Wikipedia)

Many of you may have heard about a genetic variant called methylenetetrahydrofolate reductase or  “MTHFR”  for short. While up to 70% of the population has this normal variant it is said to affect many functions in the body that can affect your health. Parents in the autism community are more familiar with this than most but it’s becoming more familiar in all areas of chronic illness.

Some have felt this was the cause for autism but more recent research is not demonstrating that to be true.  Rather it plays a role in autism because of how these variants affect the ability to detoxify metals.  Many children who have one or more of these variant gene’s do improve in symptoms when this is treated with methylation supplements.

I have a functional medicine doctor that I have been working with for over 6 years to treat my adrenal fatigue and hypothyroidism. She decided to test me for this because of my own health history and my son’s diagnosis. My son has not been tested yet but we hope to at some point. My doctor felt that if the results were positive it would help me demonstrate that this testing should be done for my child and knowing his results might help us with his biomedical management.

I got my MTHFR labs back on Friday and they were not what I expected.

I opened my email from the doctor and it said “Congratulations, you’re a mutant!”.

She has a great sense of humor! I was not laughing though.

My results said I have one copy of the C677T mutation which means I am heterozygous (meaning one copy). Those that are homozygous have two copies of the gene.  I am still learning what this means for me or for my family.

I began taking methylcobalamin several months before this to replace the B12 I was not getting in my allergy elimination diet.  Before I had done 107 rounds of chelation I didn’ really tolerate methylcobalmin without side effects. My conclusion for this was that I must have a methylation problem of some kind because of my mercury poisoning. So I was impressed with the progress I had made with  just chelation, juice cleansing and liver support.I did find the MB12 supplements improved my energy levels tremendously.This also the pernicious anemia I’ve had for years on blood work.

I still don’t know for sure if my son has a copy of this gene because we have not had family testing. The potential for him to have it is high and it might explain the unusual anomalies in his previous blood testing. Several times doctors have checked his serum B12 and it has come back high. When he was 8, it was 929 in a range of 211-911 pg/ml.

I asked his pediatrician about this because there was no obvious explanation for this. I was told that “some people just have high serum B12”.

I was confused and this didn’t really make any sense to me. He’d never been given B12. We were not supplementing B12 or even B complex.  It was tested again a year later at age 9, and the results were 1293 in a range of 211-911. So it actually went higher and still he wasn’t on any. I was told the same thing.

All my research online didn’t reveal much about causes of high serum B12 in the absence of supplementation at that time. However, back then there wasn’t that much out there on this subject. More recent articles indicate that this is the results of MTHFR. and it means he isn’t converting folic acid. (

My doctor advised me to start on 1000mcg of methylfolate per day. She did strongly warm me that it might cause bad side effects at first. If it did, I was to reduce it to 500mcg.

She’s been my functional MD for years and she knows me, so she said she expected that it was going to be rough for me because I always react the opposite of most people.

Guess what? She was correct!  No surprise…. I’m sensitive to everything anyway and why would this be any different? (Methylfolate Side Effects).

Shortly after taking sublingual 1000mcg methylfolate I began to notice I didn’t feel quite right and I had the following symptoms:

  • shakiness
  • irritability
  • headache
  • anxious
  • fatigue
  • short of breath

So I just felt cruddy and upon referring to the website regarding symptoms of methylfolate therapy I took some niacin to help reduce them which has helped but it has taken me 2 days to feel normal again.

I have not restarted methylfolate at this time but in hindsite I know the dose she suggested was too much to start on.

What I have learned out of all this has helped my son. He has always had problems with fatigue, low energy and low stamina so we began him on 500mcg of methycobalamin even though his past high serum B12 indicates he might actually need methylfolate. We are not ready to add in methylfolate yet but his response to MB12 has been great. We’ve worked up to 1,000mcg and will probably go higher.

We are seeing good things with the MB12 subligual tablets. He has so much more energy and so do I!.

Want to know more? Check out MTHFR