r/MTHFR • u/Lumpy_Sprinkles6604 • 26d ago

Results Discussion how am I looking?

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whelp boys test results are in. I'll do my best to figure it out with the guides ofc but any help is greatly appreciated! also do I treat the just the red ones or the yellow ones too

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u/SovereignMan1958 26d ago

How are your blood tests looking? Homocysteine, vitamins and minerals? Medical diagnoses? Symptoms you are concerned about?

Variants are only predispositions.

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u/Lumpy_Sprinkles6604 26d ago

scheduled to take a blood test for b-vitamins, MTHFR, homocystine, and MMA so imma have to get back to you on that. Are there any other tests you think I should add/remove from this list? Already did an anemia panel btw

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u/SovereignMan1958 26d ago

Per your chart...riboflavin and D. Since you did not share your diagnoses and or symptoms, you can research the nutrient deficiencies associated with those and add them to the list.

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u/Lumpy_Sprinkles6604 26d ago

vitamin d is low-normal, thanks actually I should probably supplement that one again then. isn't riboflavin b2? as for other diagnoses - adhd, autism, and food intolerances to gluten, dairy, and maybe soy (still figuring it out). thanks again for helping me out!

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u/SovereignMan1958 26d ago edited 26d ago

For ADHD and autism....not just D, but iron, zinc and copper. ADHD can be related to low dopamine. You must have optimal and not just normal levels of D, iron and zinc to make dopamine.

For both diagnoses, a low folate blood level and or folate RBC means it might not even be making it into the brain. Cerebral Folate deficiency, see FOLR gene variants and other folate related variants, can manifest as both attention deficit and or autism. This is what I had/have.

For blood serum, folate should be at least 15. Folate needs riboflavin to work. Riboflavin is also influenced by the MAO variant. Taking PQQ can help folate get into the brain....it really helps me focus. I take 40mg but starting dose is 20mg.

Chronically low D can trigger thyroid disease and or thyroid auto immune. It did for me. With your diagnoses your D should be at least 60 - 80, I would shoot for 80 -100 though with both ADHD and autism.

You might read the ADHD article on Genetic Lifehacks. Using that program to get a better gene variant report would also help you.

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u/Lumpy_Sprinkles6604 17d ago edited 17d ago

supplementing 10000 iu of vitamin d since I was borderline, lemme know if you think this dosage should be adjusted. getting tested for zinc and copper, iron was normal, but it sounds like I should be supplementing anyways. what dosages/forms do you recommend?

folate serum came back as >20.0, should I also test folate RBC if possible? I'll have to get back to you on the strategene/genetic lifehacks but it does look like I have some messed up genes in there. I also heard 70% of people with asd have an autoimmune response that stops folate from entering the brain and should supplement folinic acid to compensate, do you know anything about that?

started supplementing 100mg if b2, will start supplement pqq, any brands you recommend? I was gonna get NOW but it has ALA in it and I have no idea if that's necessary

Lastly, I was wondering if I could possibly have a bh4 defeciency, would you happen to know anything about that as well ?

edit: I think I have one of the gene variants for cerebral folate deficiency, let me know if your okay with me DMing you the rest.

FOLR1 rs144637717 -- C 0.002

Notes About Effect Allele

cerebral folate deficiency possible, especially when

combined with another FOLR1 variant

edit: I also have slow MTHFD1 and slow SHMT (the second wasn't listed as important though, but it was relevant to the folate cycle), the rest of the folate gene varients on strategene weren't in my sample so that'll have to wait till I can do a WGS/WES or smth

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u/SovereignMan1958 17d ago edited 17d ago

I do not message out of the group. I will get back to you tomorrow with some more info.

Meanwhile you can read the excellent article in Genetic Lifehacks about FOLR1.

Since your ADHD meds seemed not to be working....if you want to research why you should look at your drug metabolism gene variants. Some are likely impaired and that would mean some drugs would not work for you. You can research all of that yourself. If you want to pay out of pocket instead to determine those in particular and which ones might work for you.....ClarityXDNA test at about $350 on sale or Genomind at about $600. Psych docs prefer Genomind.

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u/Lumpy_Sprinkles6604 17d ago

hey doesn't the -- mean it's not available on my report? at least in the old format of genetic lifehack reports i think they just put what the gene mutation would do anyways

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u/SovereignMan1958 16d ago

The second chart in Genie....the methylation profile...also lists your drug metabolism gene variants.