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.


Round 199 update

We finished round 199. It was delayed longer than originally scheduled due to an injury, that put me out of commission. No worries, I’m ok now.

My son’s only reported symptom this round was that he felt tired. I duly agree I had the same issue but I can’t really say it was the round. We have both been more tired than usual.  In my case, it’s probably iron again. In his, he’s probably entering another growth spurt! I gave extra vitamin C and magnesium since you can always use more than the protocol suggests and sometimes it helps. (extra adrenal cortex glandular too if you use that)

We still do the peanut butter cup method for night time doses since he sleeps right through these. Yes, he can chew and drink water and not wake up. Amazing what you can acclimate to with practice! During the day though, I am mixing chelator into peanut butter and giving that spread on a cracker. (we don’t premix doses doing this, and you can’t premix dmsa at all if you use that).

My plan is  to get round 200 in before the end of December. We will continue rounds but are going to retest his hair 3 months after reaching the 200th round. It’s primarily for my own curiosity.  I need to know if he still meets counting rules.

Puberty Setback Update

I am happy to report that we seem to have gotten a handle on this issue. During puberty a lot can change with hormones and this is often when an adrenal or thyroid problems shows up or gets worse. In our case it got a lot worse. Treating his thyroid with prescription desiccated thyroid and raising his adrenal support really helped a lot.

Something I’ve noted over the years is that you can’t really make a dent in reducing adrenal symptoms if there is a low thyroid condition that isn’t treated. Thankfully we found a practitioner willing to work with us in doing that.

Puberty Setbacks…it’s real tho