MTHFR genetic defect? Autism, hypothyroidism, adrenal fatigue, PCOS, anemia.. and more

I recently found out about this genetic defect via the stopthethyroidmadness website. I've spent the last two days avidly researching it and have learnt that, having autism, and judging by my other symptoms, I have a 98% chance of having one or more of its mutations. There are many other adjunctive mutations common with it, which my symptoms seem to confirm that I have.

I am close to certain my GP won't refer me for the tests, and as I cannot get an appointment with him until the second week of June, I'm not going to hang about and wait. It's £350 that I don't have (if I use a private lab that doesn't require a referal), but I have no choice, as people with this defect react badly or even fatally to nitrous oxide (laughing gas, anesthesia), and I am going to need surgery in the future (for an issue not mentioned on this forum).

I'm wondering if anyone else has found out that they have this mutation, and how they're treating it (if at all)? Have your relatives been tested? Have you ever had surgery? If so, what anesthetic was used? Anything you can tell me would be much appreciated.

27 Replies

  • Hi,

    Before you make any decision about getting expensive tests done you might want to check these posts about a genetic problem that can be behind many endocrine problems.

    and also check this symptoms list to see if maybe they apply to you.

    There is a simple inexpensive test you can take for mould biotoxins (the FACT test). Mould toxin biotoxicity is a genetic disorder that causes multi system, multi symptom problems. The pituitary gland is one of the first parts of the body to be attacked by mould biotoxins.

    Jane x

  • Hi Jane,

    Thank you for your informative response. I certainly check a scary amount of those symptoms... I'll check it out.

  • check out the website.....'23and Me' on line.....$99.00!


  • Thanks sporty :). Yeah, I'm aware of that website but was put off by what Zabby said about it not testing as many SNP's as Yasko's (which I had read in other forums previously) and about the info not being presented clearly. But I'm unsure if Yasko ships tests abroad so if 23andme is the only place available then I'll have to use them. Nevertheless, thanks again for the heads up!

  • Ditto sporty! I did mine through (I'm homogenous for C677T) and they've even reduced the price to $99 since then, although you do have to pay quite a lot to have it couriered here and back. They don't present the MTHFR results clearly but you can download your raw data and run it through a tool on this website: to tell you your status for various methylation pathway genes, including MTHFR. It doesn't cover all the genes that Dr Yasko tests for but I think it's something like 26 out of 31 and it's a lot cheaper than her test. By the way, have you seen that you can download Dr Yasko's book 'Autism: Pathways to Recovery' for free:

  • Thanks Zabby..

    They don't seem to test for SUOX, which is annoying...

  • Yes, that is annoying. But I think it offers quite a lot for a fairly small amount of money.

  • So would you recommend the test then zabby? I've been thinking about it, having it done i mean lol i know its about $79 for carriage...... Which is a shame!

    What did you have the test done for?

  • The carriage is expensive, but it's sent by DHL and you can just ring up when you've done the test and they'll come and pick it up from your house. And the test has gone down from $299 to $99, so you'll be paying a lot less than me! I'd definitely recommend it to anyone who wants to know if they have a MTHFR problem or not (I do!). They look at lots of other genes and talk about your risks of various illnesses but I take all that with a pinch of salt because you never know which genes are turned on or off. You also find out stuff about your ethnic ancestry, which I've found fascinating, although regrettably I'm only British and Irish, which is not very exciting :). And it can show you which other members are most closely related to you. As I said, it doesn't present the MTHFR information along with all its stuff about eye colour and the likelihood of you getting macular degeneration, but you can download your data and there are tools online to analyse the results, such as Promethease.

  • Wow, thanks for the answer!

    So what are you doing about your meth issues, if you do t mind me asking?


  • Hello Si, I've answered below...

  • Thanks Zabby :) Absolutely not trying to dismiss your suggestions - I appreciate your input and I agree entirely the price is decent for what you get and they're pretty expedient getting the results back to you - however, because I have so many ailments (and my family do, too; all of which they developed scarily young) I need something slighty more comprehensive. I completely fit the bill for a SUOX polymorphism so I need to get that tested, because it affects treatment protocol. Still, for people who aren't in as bad a way as me, the 23andme would be far better value for money.

    I got a reply from Dr. Yasko's office and they do ship to the UK, so if you can afford it (or even if you can't, as is my case..but fortunately I have enough space left on my overdraft), and are prepared to wait 12 weeks, know that Yasko's test is available.

    I second sporty333 in asking what you're doing about your meth issues (if you don't mind me asking either).

  • Oh, definitely do Dr Yasko's one if you think you have a particular problem with SUOX. It's a shame 23andme don't cover all her mutations but I would imagine they thought it would be rather cheeky to do so, particularly as she has worked so hard to figure out all these mutations and how they can affect people. I haven't really done much to fix my MTHFR problems as I moved house just after finding out about them and I have a toddler to look after! All I've done is start taking methyl B12 and methylfolate, but in small doses as you're supposed to start small and work up otherwise it can be a shock to the system if you suddenly produce more glutathione and start detoxing. And I've been in touch with Tim Jackson to ask about making an appointment with him via phone or Skype, although I haven't actually done that yet. I've recently had the methylation panel test done at the European Laboratory of Nutrients, which is an offshoot of an American company that does the same test and that I've seen people talk about online. I think my results are pretty typical of someone with C677T. I waited until after I'd had the test done to start taking stuff, which is another reason why it took me a while to get started!

  • Is that the company in holland that you had the other test with? How much was it?


  • It was a lot. It was 200 and something euros and I got the blood drawn at Biolab (in London) and had to pay for them to do something to one of the phials (spin it down so they could just send the plasma) and courier it chilled to the Netherlands. I think all of that was £70 or so. But I may be confusing you. 23andme is a gene test and you can see whether or not you've got a variety of different mutations in your methylation pathway, and the methylation panel blood test tests the levels of things like glutathione and different types of folic acid so you can have a better idea what supplements you need to take or check whether you're making progress. It's entirely possible to just take the recommended supplements for a MTHFR mutation and only do the methylation panel if you get stuck.

  • Hi zabby

    Well thats what I did! I just went ahead and took the suggested supplements for a few months without taking any tests. I guess you could say i didn't improve so i stopped them in the end.

    What made you had the Meth blockage then?


  • .....made you think I mean :0)

  • Well, I'd heard people mention MTHFR on online forums and I'd always had problems with my health and thought it would be a good idea to check it out at some point. Someone mentioned that they'd used 23andme and I looked it up and really liked the ancestry side of things and thought it would kill 2 birds with one stone! I wasn't surprised when I found I was homogenous for MTHFR and another gene called SHMT, but I was very surprised when my healthy husband turned out to also be homogenous for MTHFR C677T but also homogenous for 4 other methylation pathway genes!

  • Oh wow, you both did the test!

    So what treatment regime you on now then, if you don't mind me asking :0)

  • Just the b12 and methylfolate, as I mentioned above. I haven't got my husband taking anything yet as we moved house a few months ago and I've been completely preoccupied with my thyroid, as it's been such a mess recently. I think Rich Van Konyenberg's simplified protocol is a good place to start, or Dr Ben's suggestions on

  • Yeah I used to email Rich about all this. He's very helpful bless him.

    If all else fails with thyroid, adrenal and gut issues I may well go for the test next then! Lol

    Si x

  • Did you know he passed away? xx

  • No way! You're joking? Do you know how he went? X

  • I believe he had a heart attack. There's an obituary here:


  • How terribly sad! He was a lovely man who devoted his time to this illness... X

  • This is quite an old post but ill reply for posterity. .. I have the a1298c double mutation and my mother does as well. My step son as the other mthfr mutation.. I forget . It's something like c779t or something.

    In real life, his contribute *a lot* to autistic characteristics. Particularly, impulse control, social behavior and interpretation, concentration and depression. It is obvious when he is not taking his bioavailable form. It can take him up to 4 hrs to do a 20 min homework assignment with my help without treatment. With treatment he gets almost straight a 's and finishes very quickly. It's a huge difference across many areas.

    For me n mom. It's more ambiguous. I have been increasingly Ill for a long time. Doctors don't know why. Mom has severe chronic depression, and it seems to help to have treatment in combination with other drugs. I have been looking at my genetic snps and find I have a lot of methylation polymorphs. I'm focused on this research right now. I suspect I have very high functioning aspergers. Test is next month. I'm looking at the yasko method also

    B/r Jen

  • I am half way through reading 'Could it Be B12?' (which I highly recommend to all), and what I've gathered from this is that many of us are Vitamin B12 deficient and that having B12 deficiency is dangerous if you have surgery particularly with N20. If I remember rightly MTHFR is a problem partly because it leads to B12 deficiency so perhaps you could persuade your doc to test your B12 levels even if he won't do the genetic test because it's cheaper and easier to show the dangers of deficiency, and then take it from there. Anyone having surgery needs to ensure their B12 levels are optimal before hand, as a deficit can cause devastating problems e.g paralysis, and brain damage if nitrous oxide is given as an anaesthetic. Nitrous oxide wipes out your B12 stores so it can also have serious consequences for you and your child if you use it during childbirth.

    Sorry just realised this thread is way out of date but will still post as reply may help others

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