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.

More pieces of the puzzle (updated)

I decided to find a holistic physician that works with children to help us sort out what is going on with my son the past few months. While things change with puberty onset, I see things that tell me this is more than just puberty. I wanted to rule out nutritional deficiency and make sure this thyroid was working. I also wanted to see she could help us figure out this mysterious sensory thing.

I’ve noticed he became very tired the past few months even though he was sleeping sometimes 10-11 hours. He isn’t sleeping like he used too either. He’s up until past midnight, wide awake but his eyes are blood-shot (he is tired, but wired). He says his brain is too busy to sleep. Then of course good luck getting him up in the morning if he went to sleep somewhere between 12:40am and 3am. Worse yet, if he was sleeping before midnight, he was waking up sometime after 3am and unable to sleep. Plus..he just looks pale to me.

We spent over an hour with the new doctor going over everything from birth to now. I had to fill out a very extensive list of questions about everything from my pregnancy, his birth, his development, what he eats, his sleep schedule, his mood…etc. I was already impressed because any doctor we have seen in the past has never really looked at the full picture and history.

These are the labs the doctor ordered:

  • Comp Metabolic Panel
  • Ferritin
  • Free T3
  • Insulin
  • Fasting glucose
  • DHEA sulfate
  • Fibrinogen
  • Reverse T3
  • Pregnenolone
  • RBC Magnesium
  • Candida IgA/IgG/IgE auto-antibodies
  • 96 Delayed Food Allergy panel.

These are the labs I brought from the primary care doctor: TSH, Free T4, iron, Vitamin D, HCT, cholesterol/HDL.  This is about all they would check for us.  I was told the labs were normal, I got a copy and  he had low iron and low vitamin D. So..NOT normal.

What the extensive testing revealed:

  • He is homozygous (two copies) for MTHFR C677T
  • His adrenals are in wired/tired stage and need more support
  • He needs methylated B vitamins BADLY
  • He needs Phosphatidylserine at night
  • His DHEA is low
  • His Pregnenolone is also low
  • His fibrinogen is low
  • His Free T3 could be a bit higher
  • He has low ferritin and iron
  • He is low in Vitamin D
  • His glucose and insulin are elevated.
  • He needs a higher dose of MB12 than what he is on.

What supplements were recommended:

  • DHA
  • Methylcobalmin-B12
  • Methylated B complex
  • Phosphatidylserine
  • D3- 10,000 IU per day
  • Iron
  • Buffered vitamin C
  • Probiotic
  • Betain with meals or ACV
  • Adrenal Cortex in the morning
  • L-Theanine
  • Pregnenolone
  • A multivitamin with B’s, iodine
  • Selenium
  • Zinc
  • Protein
  • Chromium with meals* (my recommendation to help with managing the blood sugar issue)

He was already taking Adrenal cortex glandular, MB12 (non-GMO source), vitamin D, probiotics and iron. We need to continue these but raise the doses.

It seems from everything we discussed at the follow-up appointment that much of the issues we are seeing with low hormones, and deficiencies are related to MTHFR which led to low vitamin levels and adrenal function. She was also very pleased that I had done so much already and that we had already done so much chelation. I found out I had one copy of MTHFR only last year, so I suspected he had at least one. I didn’t suspect it would be two copies though which puts him at a 30% methylation rate. Sigh….

We have begun adding in the new supplements slowly. We do have a problem with tolerating fish oil, so I’m sorting out how to get DHA that won’t cause him to be nauseous. For years he took cod liver oil without issue, but about a year ago it began making him nauseous. I cannot get betaine or ACV into him, due to taste or unavailability in chewable form.

Now if only there was a palatable methylB complex for kids that can’t take capsules…….oh there I go dreaming that again!**

Update: Just a few weeks into adding in these changes and he is falling asleep by 11pm and sleeping the entire night!

Update: January 25, 2017: We discontinued pregnenolone and only supplemented at 5mg which was well below what the doctor recommended. I noticed he felt better on it for several weeks but then we began noticing it was causing anger so we stopped. (I had the same reaction to this supplement even though labs warrant its use). I did find a chewable methylated B that we like by **Jarrow Methyl B12 and Folate. We are also using Smarty Pants for Omega’s and additional B’s. While the dose is far less than the amount of DHA he probably needs, I’m happy to find something he will take so he can get some which is better than none. Perhaps in the future we will find a DHA supplement that doesn’t cause nausea for him.