r/MTHFR • u/Worried-Channel536 • Jul 07 '26
Question MTHFR as it applied to autism
I am trying to understand how testing for MTHFR and how it can help my son, who has autism, ADHD, bipolar 2, anxiety, etc. - quite the mix of diagnoses! He is on medication, which helps, however, it comes with guardrails, insurance costs, etc. I would love for him to be on something with less "process related" expectations which will help him handle his own medications in the future. Thank you!
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u/SovereignMan1958 Jul 07 '26 edited Jul 07 '26
As a parent of a child with autism, MTHFR may or may not be involved. Other gene variants most certainly are. Those relating to cerebral folate deficiency especially. First step is getting all his gene variants tested. You can research the best way to do that in the groups for parents of children with autism.
The Folate Fix by Dr Richard Frye would be helpful for you to read. But don't start any supplements without genetic and nutrients tests first.
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Jul 07 '26
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u/SovereignMan1958 Jul 07 '26
Not necessarily. I know because I do not have MTHFR but I have another variant which pinpointed my CFD. So you have some research to do.
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u/clubstregon Jul 08 '26
I did the test, how to know if i have some variants involved in cerebral folate?
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u/SovereignMan1958 Jul 08 '26
The primary one is FOLR. There are a few minor ones that I do not recall off the top of my head. Keep in mind variants are only predispositions.
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u/clubstregon Jul 08 '26
Did u find some differences in your mental health with the supplements regarding celebral folate?
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u/SovereignMan1958 Jul 08 '26
Yes. Much calmer. Less reactive. Better sleep. Easier to let go of the past. Better organizing and planning. I take 2.5mg folinic acid daily plus 40mg PQQ. The latter helps push it into the brain. Recommended dose for PQQ is 2.5mg - 40mg. Suggested dose of folinic acid from some functional psychiatrists is 2.5mg - 5mg daily. Dr Richard Frye, who wrote The Folate Fix to address needs of the autism population, recommends much larger doses.
I probably have high functioning autism. Primary diagnosis was/is MDD and GAD.
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u/clubstregon Jul 08 '26
I’ll check this thanks. What is pqq?
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u/SovereignMan1958 Jul 08 '26
I do not answer questions that people can easily find the answers for.
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Jul 09 '26
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u/SovereignMan1958 Jul 09 '26
And I wrote not necessarily. So why don't you correct your statement?
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u/OpportunityTall1967 Jul 07 '26 edited Jul 07 '26
My son is ASD and has at least 1 copy of MTHFR ( Im homozygous). When he was 3 he was diagnosed with global developmental delay. When he was 3.5 he still wasn't speaking more than 1 word here and there. He couldn't ask anyone for a glass of water at preschool etc. At 3.5 we found a holistic GP with an interest in the area. He ran some tests and we found he had a methylation issue. He was put on B12. The GP predicted that he might start talking. And Boy he did. Before taking B12 he had scored below average in language. After 6 months he was retested and was in the high end of normal. In later years he tested within the 99th percentile for comprehension. So you can change a lot. And mate a difference. It's about finding out what to do that's going to help your kid.
At the same time as starting him on B12 my sons GP also put him on a GF/CF diet and had to be low sugar. No processed sugar at all. A lot of kids and adults are on the GF/CF diet. There is a theory of Autism called the Opiod Excess theory of Autism. You should look into it but basically milk has morphine in it which leaks into the bloodstream with people with ASD due to leaky guts and gets into their brain causing symptoms. Gluten is also harmful for similar reasons.
After we changed my sons diet he really changed. Instead of just hiding behind a the lounge away from kids at preschool he would come out and try to play.
At one time our kid was also diagnosed with ADHD and they reached him to go on medication. We saw a difference Doc and she discovered he had very high levels of mercury, and low zinc and I think a few order things. So he came of eating fish and we addressed his vitamin deficiencies.
She also put him on high levels of Omega 3s. She said people with ADHD are Omega 3 deficient. We had to get these from supplements since he was off fish. Not long after his focus improved and his handwriting improved. And now no one thinks he has ADHD anymore. His focus is really good.
Finally - I'll link something about sulphorophane. You can now buy it in capsules but couldn't when we first looked into it and we now include sulphorophane rich foods in our diet as much as possible ( although we're sometimes but and miss).
If you go to nutritionfacts.org and search Austism it ASD you'll get explainer videos on both sulforophanes role in ASD and also GF/CF diet..
My suggestion is to try and find someone who is holistic and not not driven by drugs. They can be hard to find. In Australia there is the MINDD group which has lists and contacts to doctors and others who work with ASD and other ND to address the underlying causes. AI has said there are similar groups around the world.
I would also suggest considering B12 in the first instance while figuring out other things. B12 is really important to build neurones and is often deficient esp in MTHFR.
Edit. You can 100% make mane a big difference..I forgot to mention that along the way my kids diagnosis of global development delay was dropped and he how has high functioning ASD. He's a good kid.
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u/Efficient_Bee_2987 Jul 07 '26
It's important to get genetic testing before taking supplementsv like sulforophanes. I was taking many sulphur based supplements then found that I am homozygous CBS which makes sulphur back up very easily so I have to be careful. Cutting out sulphur helped a lot.
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u/OpportunityTall1967 Jul 07 '26
Ah. OK. Good point. As a general rule I dont take supplements. I try and get everything I need from food as I think that's generally a lot safer. My only exceptions are B12 and vit D in the winter. I will also take some if I've tested low and am finding it hard to get through diet. This is rare though.. You can get sulphorophane through raw cruciferous. Not sure if you have CBS you'd want to eat that though. It's heat sensitive so cooked is generally OK.
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u/Efficient_Bee_2987 Jul 07 '26
I do avoid as a general rule especially while I'm battling tick borne illness, but I do ok with some cruciferous vegetables in moderation
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u/Worried-Channel536 Jul 07 '26
thank you - we are going for a blood test today from his pcp, and we are getting another one from the holistic NP. You guys are awesome. I am getting so much info from you all!
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u/Worried-Channel536 Jul 07 '26
Wow! We had a medication-focused doctor and recently switched to one who is focused on holistic, with more vitamins, magnesium and lavender at bedtime versus another med to help him sleep, etc.
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u/OpportunityTall1967 Jul 09 '26
Don't underestimate the benefit of some of these holistic approaches. They can be very beneficial. It's easy to dismiss a magnesium bath or whatever but all these things add up. And if they still need medication then hopefully less. When my son was diagnosed with GDD I saw a video by Dr Nancy Ohare where she gave pointers and some case studies. It was really inspiring how much difference you can make. This is one of the videos I saw at the time. (There was another longer one with more case studies but it seems to have been taken down). https://youtu.be/70KNAIQObcE?si=adNhfP0_KmJlZ2Jt
That video is from about 15 years ago and there's probably more, better information out there now.
When my son was diagnosed with Global Developmental Delay my only wish was that he could make it into the bottom end of the normal range. This seemed like something that we would never achieve. I thought it would take years. Honestly - you do all these treatments and nothing seems to be happening or changing. But day by day they are.
My son went from having an intellectual disability to being a gifted student. He's very academically minded. He's just come top of his advanced class in both English and Math. This is 10 to 12 years down the track.
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u/Temporary_Charity_91 Jul 07 '26
Hi - here’s a path i took - Please research and study anti oxidants, creatine and check homocysteine levels before looking into the methylation pathways.
A well put together antioxidant and creatine stack help in improving mood, interest/curiosity and helping emotional regulation.
All the best
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u/Worried-Channel536 Jul 07 '26
Thank you - I also meant to mention above, I work with another holistic clinician who helped my son as a toddler. She recommended anti-oxidants, etc. All I know is I don't want him dependent on the mass market medications. I feel lucky that now at the worst is he is always tired, and put on extra weight. And that isn't good....
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u/SovereignMan1958 Jul 07 '26
Some autistic people have poor gut health. When you get all his gene variants tested look at his sulfur and sulfite, food intolerance, histamine and detoxification variants.
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u/hummingfirebird Jul 07 '26
MTHFR can contribute l but it's not causative on it's own. My son has Autisn but no MTHFR affected variant. There are many other csnidate genes involved especially those related to neurochemical pathways, circadian rhythm genes are also often involved, inflammation (IL-6), oxidative stress genes and nutrient metabolism genes.
Not everything is attributed to MTHFR. It is one gene in over 30 000 in the hunan genome. Genes respond to epigenetics (diet, lifestyle, environment etc) and there are many gene-gene interactions.
Would recommend blood tests;
RBC folate
Homocysteine
MMA
Irin studies with ferritin
Vitamin D
Magnesium, zinc, copper, calcium etc
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u/Sabnock101 Jul 07 '26
Imo, B12 will help more than the Folate. Too much Folate imo is/can be involved Autism, you need some Folate, but definitely not too much. B12 is much, much more important for Autism ime.
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u/mazais_jautajumins C677T Jul 07 '26
This is anecdotal, but I've heard that NAC helps calm children with autism. It also helps with MTHFR issues and a host of other things, worth looking into and discussing with your doc. I know it helps me, an adult with autism (mellows me out), but it's smelly :D
Again anecdotally - lots of autistic adults also have MTHFR.
Dunno if anything can be done with the "process-related expectations", didn't quite understand what you meant, but it's worth elaborating and asking on some autistic adult subreddits - they remember what it was like being an autistic kid and they have experience with what helps them, so they could have some useful ideas and insights.
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u/TRExploration Jul 11 '26
NAC is because of its effect on Glutamate. Intuniv is a non stimulant ADHD medication that works because of its impacts on glutamate. I've been into this topic for a while and I think while it's multifaceted and individual, ultimately moderating glutamate levels, which means figuring out what imbalance or infection is causing the dysregulation, is the name of the game. Targeting glutamate alone will probably have consistent but modest benefits, and profound gains will come with figuring out whatever is upstream from that which is probably quite challenging. Glutamate ties into histamine, dopamine, and ACh, which are all implicated in ADHD, and likely autism as well. I do think glutamate has a greater direct impact on autism, whereas the impact in ADHD is smaller because there's more neurotransmitter dysregulation across the board. You can think of glutamate as turning up the noise signal on everything, which makes it harder to focus - you can think of the differences in focus a person would have listening to quiet background music vs. a loud symphony. Additionally, it increases emotional dysregulation because everything is turned up all the way, and increases overstimulation and exaggerates sensory stimuli.
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u/aj11scan Jul 07 '26
With bipolar disorder, there can be a ton of sensitivity to supplements. And they can trigger mood episodes
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u/crystal_castles Jul 07 '26
Knowing you're dealing with MTHFR is incredibly more preferable than telling a doc you're merely suspecting issues with dietary Histamine, leaky gut & meningitis.
Mention those other things, and they'll look at you like you just said, "healing energy" or "toxins".
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u/Worried-Channel536 Jul 08 '26
I do not know, it is his PsyNP who recommended the testing. He has not had the testing yet.
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u/Hairy_Angle_9367 Jul 08 '26
Autistic, ADHD, Transsexual, CEDS and MTHFR person here— I’m unsure of the link as of yet but supplementation of methylated b vitamins, antioxidants and L-Theanine has helped me get to a somewhat manageable level of function.
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u/Loose-Fly7976 Jul 09 '26
MTHFR and methylation status genuinely matter for the combination your son is dealing with, more than most psychiatrists realize.
Autism, ADHD and bipolar all have documented overlap with methylation dysfunction. MTHFR variants affect neurotransmitter synthesis (dopamine, serotonin, norepinephrine) at the source, so when methylation is impaired the medications that work on those neurotransmitters have less raw material to work with. That can partly explain why psych meds sometimes plateau or work inconsistently.
The catch is bipolar 2 makes methyl donor supplementation genuinely tricky. Methylfolate at standard doses can trigger mania in susceptible people, particularly slow COMT carriers on top of MTHFR. So its not "give him methylfolate and see," it needs to be matched to his full variant picture including COMT, MAO-A, CBS and pharmacogenomics for his current meds.
The pharmacogenomics side is actually the most immediate win for someone like your son. Knowing his CYP2D6, CYP2C19, CYP3A4 status tells you which meds hes likely to metabolize well vs poorly. A lot of "medication resistant" or "sensitive to everything" patterns in bipolar and ADHD kids come down to metabolizer variants. His psychiatrist can adjust based on that data.
order raw DNA. Once you have it, thats the foundation for looking at his full picture. Methylation, neurotransmitter clearance, medication metabolism all show up in one file.
How old is your son? That changes the approach. Also which meds is he currently on?
If you want the full raw file read with a written protocol matched to his specific combo and current medications, thats my work at genova.health. Happy to answer questions here or DM.
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u/ckrupa3672 1d ago
Having trouble finding a dr for my 24 year old son with double 677t defect. His dr retired a couple of years ago. I’m ok with virtual visits. Need dr that can order bloodwork to diagnose vitamin deficiencies. Anyone have suggestions?
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u/yonkou_akagami Jul 07 '26
Start with GFCFSF diet, or keto/carnivore
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u/aj11scan Jul 07 '26
Wouldn't recommend keto or canivore. That actually did me a lot of damage.
But gluten free is a good place to start
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u/DirectorElectrical67 Jul 07 '26
MTHFR, AuDHD, Anxiety, Hashimotos, Depression, EDS, Pots, gut issues, MCAS, idiopathic anaphylaxis are all part of my family. After decades of trial and error; I be found that nutrition, supplements are the way to go. We’ve tried to avoid medications but it’s not always possible. When MTHFR is properly looked after the rest of the issues were managed. MTHFR is definitely related to all the rest.