S2E9: MTHFR Questions

I love it when listeners leave me questions so here is this month’s roundup!

I don’t have a doctor that advises me about MTHFR. A mental health provider suspected the mutation because of years of resistant depression. She did a swab to test genetics for specific medication absorption which included MTHFR testing.we found that I have compound heterozygous mutations. I’ve been on high dose methyl folate and B12 for a few years and wonder if I should be getting regular tests for levels etc. where should I go? I have researched the topic myself online but it’s very confusing and there seems to be no general consensus. Can you help me? Thank you,

– Jamie L

This is a great question, Jamie because so many MTHFR folks are out there doing it on their own. Unfortunately, online and between practitioners, there is absolutely no consensus on the best way to do this, so really it comes down to finding the right way for you.

I notice you mention methylfolate and B12 and that is great, but make sure you’re taking the other B vitamins as well because they are all necessary for this to work – especially riboflavin. Also, if you’ve been taking high doses of methylfolate without other Bs, then cut your dose down before you start them because the dose might be too high once you get the other pieces of the puzzle in there.

In terms of testing, the things we want to look at specifically for MTHFR are folate, B12, and homocysteine. Testing every couple of years is fine. Testing folate is complicated because unmetabolized folic acid can be mixed into your total so the test isn’t so valuable except to show us trends (like it’s getting higher or it’s getting lower). B12 testing is straightforward as is homocysteine testing and if you aren’t familiar with homocysteine, check out Season 1, Episode 40: Homocysteine by The Numbers.

Outside of testing, the biggest determinant of whether or not you’re on track is your symptoms. How are you actually doing? If you’re not where you want to be, then maybe it’s time to work with a practitioner who has knowledge about MTHFR and can help you on your path.

Hi! I have an 8 year old boy. He was diagnosed ADHD at the age of 6. We started him on methylphenidates at age 7. We have tried nearly all of them and none of them agreed with him. We had gene testing done earlier this year and MTHFR came back as “Low to Intermediate activity”. Majority of the ADHD medications came back with lower odds of response. What do I do with this information? We have family history of bipolar and anxiety disorders. The adhd medications really brought out a lot of anxiety in my child. He is very competitive. He is obsessive. My son has a terrible issue with skin rashes that started when he was 4. We had skin patch testing done. He’s allergic to hydrocortisone, formaldehyde, fragrance. Once we took gluten out of his diet as well his rashes were more under control. Every time I listen to your podcasts I think some of my son’s issues point back to his MTHFR. Do I take this to his pediatrician? Do I work with his psychiatrist? Do I see a functional medical doctor? What do we do next?

– Mindy J.

ADHD on top of MTHFR is very common and it’s a difficult situation because the medications that help so many other kiddos just don’t work here. I DO think that addressing the MTHFR is the next best step. I would talk with both his psychiatrist and his pediatrician and see if either of them is comfortable fielding this issue in a way other than prescribing massive doses of folic acid, because that won’t be helpful.

If they aren’t familiar enough with MTHFR, then find a practitioner who is. It’s always best to work with someone local, but if you can’t find someone then I do still work with people one-on-one. Check the Amy + Health Coaching link at the top of the page on tohealthwiththat.com

This is why MTHFR folks need other Bs. It isn’t just about folate.

Hi! I am compound heterozygous so I of course have the C/T and A/C copies. I am hoping to start trying to get pregnant soon and I want to know what vitamins I should be taking that will work with the copies that I have. I am on 5mg of l-methylfolafe right now but no B vitamins. I tried a b complex and it made me very mean and hateful so I have been scared to try anything else. I want to have the best chance at a healthy pregnancy, thank you!

– Breonna H.

Congratulations on future baby-making, Breonna. That is such an exciting time. I’m so glad you brought this up because it’s really common for people to start 5-LMTHF before other B vitamins or B12 and then have weird reactions to other Bs when they start.

It is absolutely crucial that you do start other B vitamins. I think the reason why the B complex made you mean and hateful before was that with the other B vitamins there, suddenly your dose of 5-LMTHF was way too high so it was actually that causing the mood and attitude changes and not the Bs.

Basically what is happening in this situation is that your MTHFR enzyme is still really limited because it needs other B vitamins to work – riboflavin is a direct cofactor and without riboflavin, it just won’t go. So your dietary intake of riboflavin was maxing out the amount of 5-LMTHF that you can use.

So you do need to add a B complex back in there, but before you do, drop your 5-LMTHF down to 1mg for a couple of weeks and then add the B-complex. Also, check the B12 in the B complex because some people have a weird reaction to methyl-B12 too. Here’s a post on all the different forms of B12.

When you do give this a try, let me know how it all goes!

How do my folate levels drop after starting Metanx and multivitamin with active folate?

– Human

This is another great question, and I’m actually guessing a bit because I don’t know where your folate levels were before you started. I can say that what I see often in clients is that they come in with super high folate on lab tests, but functional folate deficiencies. Once we eliminate the folic acid and get them started on active folate then blood levels are technically getting lower because we’re clearing out the unmetabolized folic acid that hangs around in there cluttering up the works. Or at least that’s what we hope to do. Even as folate levels look like they’re dropping, the person is symptomatically improving.

I see that happen a lot, but if that doesn’t sound like what is going on for you, reach out again and give me a bit more detail so I can answer more thoroughly. Just remember that serum folate measures everything in the serum – usually that includes natural folate, 5-LMTHF that has been made by your body, whatever folate you’re taking, PLUS any unmetabolized folic acid that is still kicking around. It isn’t a great test on in terms of value on its own, but what we can do is exactly what you’re doing, which is compare numbers over time. But typically we want this to drop a bit as the unmetabolized folic acid (or UMFA) is leaving your system.

I *love* listener questions and I’d love to answer yours. If you happen to have a question, let me know. There is a video-ask for questions on the home page of tohealthwiththat.com. I’ll try to do an answer podcast every month or two just depending on how many questions come in. I also love meeting you guys in Genetic Rockstars, it’s an MTHFR community away from the craziness of social media with lots of inside information, polls, tips, and generally other MTHFR folks who are talking about their experiences. Please join us at community.tohealthwiththat.com.

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How Do You Know When Your Methylation is Balanced With MTHFR?

It’s great to talk about “balancing your methylation” and finding your right folate dose, but how do you know when you’re actually there? This question matters a lot because I’ve seen so many clients who are on a constant upward trend with their methylfolate dose – always pushing to take more simply because they can tolerate it.

The point is, do you need it? Is it helping you? This isn’t a contest in which the person who takes the most methylfolate wins a prize, this is about listening to your body and finding balance – balance meaning not too much and not too little. This goes for MTHFR folks, but also people without an MTHFR polymorphism, because you don’t have to have MTHFR to have imbalanced methylation.

So where is this elusive magical place in which balance is reached? It may not be nearly as elusive, nor as magical as you’re thinking.

Does Balanced Methylation Mean All My Symptoms Are Gone?

Goodness, I wish it did. It usually means most symptoms are better, and some of them are gone, but all of your symptoms being gone is not actually realistic. We’re all human and human bodies are built differently for lots of reasons. One of those is MTHFR, but each human has hundreds of polymorphisms along with a whole life history of pathogens, traumas, nutritional factors, lifestyles, and varying degrees of self-care. Balancing methylation can’t compensate for all of that, it just takes a big chunk out of the bottom.

Having said that, the process of balancing your methylation usually helps people tremendously – decreasing anxiety, softening depression, improving sleep, reducing inflammation, normalizing hormones and generally getting things closer to where they should be.

What Is The Easiest Way To Tell If My Methylation Is Balanced?

There are two great ways. The first is to look at the work you’re doing around methylation. The second is to look at your labs.

Caring For Your Methylation

You know you’re at a place where your methylation is balanced when these things are happening:

  • You understand the signals your body gives you when it needs more support and when you’re taking too much methylation support
  • You respond appropriately to those signals
  • You aren’t hitting major walls coming from detox symptoms or up and down methylation crashes
  • Your symptoms are slowly but surely softening and resolving. THey may not be fully resolved, but you’re on an upward trajectory. Some of this just takes time.
  • Your body’s basic needs are regularly met – you’re getting good nutrition, good sleep, gentle exercise.

I see the same panic-stricken look on many faces when I say this, especially from folks at the beginning of their journey. Don’t worry – this all becomes clear over time and this is a journey that takes time. In good news, the best way for it to all unfold, is softly. This is a lot like pregnancy in that you can’t really rush it – it’s best to just support the process. For everyone who has just muttered something grumpy under their breath, the next section is more concrete. I promise.

Ok – So What About Lab Work?

Basic bloodwork can tell you a lot about what your body is doing at that moment. Values that are most specific to methylation are:

  • Serum Folate
  • Serum B12
  • Serum homocysteine

There are also some tests that are suggested on various MTHFR forums that I am less inclined to use including:

  • Serum MMA
  • RBC Folate
  • Urine MMA
  • Urine FIGLU

We’ll go through the tests I use one by one. The tests I am less inclined to use we’ll cover in a different post.

Serum Folate Test

This is the standard folate testing t and sadly doesn’t differentiate between useful folate that is bioavailable and folic acid or worse, unmetabolized folic acid. So this test will tell us if there is an overt folate deficiency, but not much else. Still, knowing if you have a folate deficiency matters with MTHFR. Levels below 4 mcg/L indicate a folate deficiency, but outside of that, the guidelines are vague. I don’t like to see the numbers creep too high either and >8 mcg/L can also be a red flag for over-supplementation, or for high lingering folic acid and unmetabolized folic acid in the blood.

Serum B12 Test

This test measures levels of B12 in the serum and is reasonably accurate, but has a broad reference range. The reference value is typically 180 – 914 ng/L and anything in there is considered normal. Anything below 180 ng/L is considered to be deficient. Because it is such a broad range, I tend to look at anything even close to 180 ng/L with suspicion. Remember reference ranges give us the average numbers where people begin to experience symptoms, but that doesn’t mean it’s the ideal number for you, so aim for the middle of the range (somewhere between 450 – 650 ng/L). Also, if you test normal but still have symptoms of B12 deficiency, then extra supplementation could be warranted.

Serum Homocysteine Test

We’ve talked a lot about serum homocysteine and there is a normal range and also an optimal range. If you’re outside of normal, then obviously there’s a problem, and for MTHFR folks it’s a good idea to aim for optimal. The normal range is 5 – 15 umol/L with optimal being 6 – 9 umol/L (in my opinion. Follow the link to see my reasoning.) Homocysteine, remember is an inflammatory marker in the blood that is a direct measure of how well you’re methylating methionine and so is the clearest measure of MTHFR function.

Are There Other Tests?

There are other tests, namely serum MMA, urine MMA and urine FIGLU. These tests are less commonly used and deserve a post of their own when we have more time. I find the serum folate, serum B12 and homocysteine to be the most useful of the bunch.

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