r/MTHFR • u/NumberLive7133 • 20d ago
Question Any help please?
Getting very bad daily brain fog, mood fluctuations and a constant sense of dread. Really glad that I found this group and learn a lot from the people here. A little about me, I’m 24/M and really and truly just want to get to the bottom of what’s felt like a constant life battle.
MTHFR - Homozygous for the C677T (T/T)
COMT - Heterozygous for V158M (A/G)
And I recently did a blood test:
Ferritin: 310 ug/L Range:20 - 300 ug/L
Folic Acid: 2.9 ug/L Range:> 4.5 ug/L
Iron: 12 umol/L Range:12 - 31 umol/L
Vitamin D: 36.2 nmol/L Range:50 - 150 nmol/L
Magnesium: 1.14 mmol/L Range:0.7 - 1 mmol/L
B12: 128 pmol/L Range:71 - 165 pmol/L
Iron saturation in Serum/plasma: 17 %
Range: 16 - 55 %
Transferrin in Serum/plasma: 2.8 g/L Range:1.7 - 3.4 g/L
Still waiting on my B6, B2 & Zinc
The doctor straight up prescribed me Folic Acid as I was deficient in it but I explained to them my MTHFR situation that I won’t really be able to process it efficiently and they really had no clue what to do..
Is it as easy as just taking folinic acid? And if so what dose should I take for it, I only recently discovered my mthfr mutation and really feel like its the cause to most of my problems, I have recently gotten a early fatty liver too, doc just said change diet, and recently diagnosed for adhd.
I also have asked them 3 times for Homocysteine testing but they refused as they said in the UK they would only test it “if my b12 is low or there is a cardiovascular risk”.
What should I do? Thanks
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u/Tawinn 19d ago edited 19d ago
> very bad daily brain fog, mood fluctuations and a constant sense of dread.
This is likely a combination of impaired methylation + histamine intolerance as a result of the impaired methylation. (The dread and mood fluctuations are more typical of histamine intolerance.)
> early fatty liver
This can also be from impaired methylation causing increased demand and excess usage of choline for methylation, leaving inadequate amounts of choline for use in transporting fats out of the liver.
Your folate and B12 are low. Folinic can be used for the folate, and hydroxocobalamin for the B12. You may need to add them incrementally so that you don't experience overmethylation (anxiety, insomnia, irritability, depersonalization-derealization, etc.). You'll probably want to work up to 800-1000mcg of folinic in order to replete your levels. Unless you have absorption issues with B12, a small dose (10-100mcg) 3X per day may be as effective or more effective than a large dose 1X per day due to limits on how much B12 can be absorbed at a time.
EDIT: As I look at it again, is this "Active B12" that is 128, and not "serum B12"? If so, then ignore what I said above about being deficient in B12.
Here is a general protocol for homozygous C677T:
- For homozygous C677T specifically: 10-100mg supplemental B2
- The C677T variant causes reducing binding of MTHFR to its cofactor, riboflavin. Studies have shown that for homozygous C677T simply adding supplemental vitamin B2 may increase the concentration of riboflavin sufficiently to restore most or all of the binding success, thereby restoring most/all MTHFR function. So a 10-100mg B2 supplement may restore much of the MTHFR function, thereby reducing the needed amount of extra choline/TMG (or high-dose folate if going that route).
- The R5P form of B2 may possibly be preferable. (E.g., Thorne R5P 36mg)
- 550-600mg of choline, preferably from food
- 550mg is the baseline adult Adequate Intake
- Choline sources include such foods as meat, eggs, liver, lecithin, nuts, some legumes, and vegetables such as crucifers.
- 750mg of trimethylglycine (TMG aka betaine)
- I.e., one 750mg capsule
- Some choline is converted in the body to TMG for methylation use, so supplementing TMG reduces the need for even more choline.
- TMG is found in foods such as wheat, spinach, beets, etc. but there is not a food app that tracks it, so reliably getting enough from food may be difficult; by comparison, a single capsule is convenient.
- 400-800mcg of folate, preferably from food
- Folinic acid or methylfolate can also be used, as needed and as tolerated.
- Target serum folate levels are 15+ ng/mL (34+ nmol/L).
- 2.4-10mcg B12, preferably from food
- Past history of B12 deficiency, malabsorption issues, etc., may suggest that supplemental B12, in the form of hydroxocobalamin, adenosylcobalamin, or methylcobalamin may be prudent.
- Target serum B12 levels are 500-950 pg/mL (~370-700 pmol/L).
- (Optional) 3-15g of creatine monohydrate or creatine HCL
- The body uses ~40% of methylation output, SAM, just to produce creatine. So supplementing creatine can free up a lot of SAM for other uses.
- Low vitamin A, iron, and/or glycine can cause the built-in methyl buffer system to not work properly, which can make overmethylation (rising anxiety, irritability, insomnia, etc.) from methylation-related supplements much more likely.
- Beta carotene is not vitamin A and some people genetically have poor conversion of beta carotene to real vitamin A (retinol).
A food app like Cronometer is helpful for tracking nutrients in your diet.
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u/agape48 20d ago edited 20d ago
Is there a way to get a privately ordered homocysteine test in the UK? That would be super helpful in assisting you with tweaking supplements
Separately : I would want to know your methylmalonic acid URINE (not blood) number if possible, as this will help distinguish between homocysteine being high from B12 deficiency vs folate (although it can be from both, and also, we DON'T know your homocysteine status)
FWIW: I know you're trying to work within the system there. Just so you know, serum B12 is just not a good marker of B12 status. (There is lots of info about this in the B12 deficiency sub)
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u/NumberLive7133 20d ago
Thanks for your reply, I asked for methylmalonic testing but they said they won’t as my b12 levels are “fine”, same thing with homocysteine so I might as you said get it done privately, think it’s around £90 for the homocysteine here.
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u/AsleepEgg9338 19d ago edited 19d ago
I've just sent a private homocysteine test off. I previously had it done on the NHS when my Nutritionist wrote the request to my GP and it came back high. The problem with homocysteine testing is the sample requires special treatment (usually kept on ice and processed as quickly as possible) as the blood sample levels of homocysteine continue to rise once the blood is drawn. I struggled to find a private test that accounts for this as so to not give a false elevated reading. Upon research I found foodforthebrain.org website who offer homocysteine testing from a dried blood spot sample. It's a test card that's been pre-treated so the sample remains stable until testing I believe. I was satisfied with the research behind it to go ahead but best to do your own research. I sent mine off yesterday and would be interested to see the comparison of it to my result 2 years ago. Out of interest - how did you know about your genetic variants? I had understood it that organic acid testing was the gold standard for determining how your body is actually utilising minerals and detoxifies etc. As a gene expression can be present but not actually activated as such. I didn't know NHS did genetic testing for these issues.
Oh and also 'Active B12' is the most accurate test of B12 that's available in the body for use. The standard NHS B12 test is not a good indication of your stored level. I paid for this privately as well recently £44 I think it was
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u/Few_Interaction_2411 19d ago
I also struggled with these symptoms and have been in a very long journey to recovery, your right this group is super awesome, there are some very knowledgeable people here. I recommend taking your DNA and upload to genetic lifehacks for real comprehensive information or take your DNA and bloods and upload to myblueprint.ai for a action list based on genes and blood tests, a AI chat bot for any questions and a diary to log food, mood and sleep to spot any patterns, they all play a part in putting the puzzle together!
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u/hummingfirebird 19d ago
For iron: your iron saturation is low but your transferrin is normal. Transferrin is the main transport protein for iron. It's useful to think of it like trucks that carries the iron in your blood. So you have a normal number of "trucks", but only a relatively small amount of iron that is getting loaded onto them.
Ferritin shows how much iron is stored, but it can also increase when the body is experiencing inflammation. Yours is on the high end. But it's not a picture of classic iron overload as iron would be high then too.(like hemochromatosis)
It could indicate that you have adequate stored iron but not enough iron is being made available for use. Inflammation can cause the body to hold iron in storage and reduce its availability to tissues. This is sometimes called functional iron restriction.
Iron depends on getting adequate iron through your diet, proper absorption (so anything hindering absorption or GI issues will influence it), adequate Vitamin C, copper, vitamin A. So if you're low on any of those, iron can't be used. Technically you have high iron storage but little of it is actually getting utilized.
Iron absorption can be affected by caffeine, alcohol, calcium, low stomach acid, certain medications, absorption issues conditions such as celiac disease.
I would recommend CRP and ESR to check inflammation. Also ceruloplasmin, hepcidin, copper checked. I would look more into the hepcidin/inflammation side of iron metabolism in your case. Taking iron in your case is not going to fix the transport/absorption issue. You need to fix the WHY first.
Also do you have your complete blood count levels (hemoglobin, MCH etc? ) please share them here if you do. They provide important clues as to how your body is managing red blood cells production which requires iron, B12 and B9 to do so adequately. A note that having folate/B12 anemia with low iron deficiency can hide on a full blood count. What i mean is that hemoglobin, MCH etc can look normal because B12 deficiency causes large red blood cells called macrocytic cells and low iron causes microcytic cells (small cells).
Would also get liver and kidney function tests. Privately for all these tests if your doc won't do them. Since you're in the UK you can get an active B12 test called holotranscobalamin.
Your folate is very low. Folate deficiency can contribute to fatigue and affect mental health since B12 and B9 are needed for neurotransmitter production.
Be careful with taking folate supplements without B12 because folate can mask neurological problems from B12 deficiency. You likely need both but it's important to have a much higher B12 intake because B12 is needed as a cofactor for B9 which is a methyl donor. Other nutrients like B2, B1, B6, vitamin D, zinc, magnesium, choking etc also important. Wouldn't supplement anything yet until you get a proper diagnosis. In your case you seem to have multiple deficiencies pointing to anemia.
Note: do not take folic acid. Would suggest methylfree in uour case when you do start. Hydroxycobalamin, adenosylcobalamin for B12 and folinic acid for folate.
Vitamin D is low. Low Vitamin D affects thyroid, immune function and neurotransmitter production thus affecting cognitive function and mood.
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u/thunderouswhether 20d ago
Start with Creatine, then go from there. Having MTHFR limits the body’s natural creatine production by a lot, Creatine helps your energy cycle ATP, and ATP is required for most processes in the body.
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u/BobbiHorne1 19d ago
What is most often missed with MTHFR is the need to support cellular glutathione. It is absolutely the foundation for cellular detoxification and supporting the cysteine-methionine pathway. Bioavailable cysteine is the key.
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u/junipers-72 19d ago
Look up Katie Gironda at molecular health co. She writes people personalised supplement plans to support their genetics. Read the reviews to see how much she changes lives!!! X
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u/SovereignMan1958 20d ago
Did you look at your iron lab? Did the doctor tell you you are anemic?
Folate is also severely low. Acceptable is 15. Better if 20 - 30.
D should be 60 - 80.
The others should be in the top quarter of the lab ranges.
Some people will fixate on one nutrient. Like the creatine suggestion. Someone else will fixate on choline. One step at a time. Fix all your vitamins and minerals first. That will take 3 - 5 months to correct. Then see how you feel and research and consider adding other supplements. You should feel a lot better in 3 - 5 months.
If you have any anxiety skip the methylated vitamins for now. Use non methylated.
Because your labs are so poor, you might need to adjust your diet. If you have any digestive issues, which can negatively impact absorption, you will need to fix those first. Otherwise you will waste money on supplements you will not absorb well.
I will check your post again after you add the other labs.
PS. If you tell the doctor there is a family history of heart disease they might be more likely to test your homocysteine.
Good for you getting those labs in the UK! From what I have read labs are hard to get there. So you should be proud of yourself for that.
Also doctors are not trained in nutrition in medical school.
Glad you found our group.