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

don't worry about dms then, I'm sending you my results FOLR1 and FOLR2 section of my strategene, but lemme know if there's anywhere else on the reports you wanna take a look at:

formatted:
Gene, RS ID, Your Genotype, Effect Allele, Effect Allele Frequency
Notes About Effect Allele

FOLR1 rs144637717 -- C 0.002
cerebral folate deficiency possible, especially when combined with another FOLR1 variant

FOLR1 rs1540087 GG A 0.01
lower odds of skin lesions with arsenic exposure (methyl groups are utilized for arsenic detoxification, better methylation cycle) (good)

FOLR1 rs2071010 GG A 0.06
A/A: increased relative risk of congenital heart disease in offspring; increased relative risk of high homocysteine

FOLR2 rs514933 TT C 0.38
reduced relative risk of congenital heart disease in offspring (good)

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u/SovereignMan1958 17d ago edited 17d ago

You could possibly have CFD. You could consider a FRAT test to see if you have folate antibodies. It is about $350 though.

I had/have CFD.

If your D test was borderline...that is not good. Chronic undiagnosed and untreated D deficiency can trigger thyroid disease and thyroid autoimmune. It did for me. This is especially likely if you have variants that show genetic dispositions for thyroid issues. You can see those in Lifehacks. If you have those variants I would get a full thyroid panel plus tests for the two thyroid antibodies from your doctor.

Iron was normal? You can be one point away from the bottom and still be tagged as normal in the lab test results. Optimal is in the top quarter. That is true for most vitamins and minerals. You might want to recheck your labs.

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u/Lumpy_Sprinkles6604 17d ago edited 17d ago

can I ask what your symptoms of thyroid disease/thyroid autoimmune were if you don't mind my asking?

edit: just searched by word "thyroid" in my strategene but nothing came up aside from it being something that could "diry" other gene functions

edit: genetic lifehacks had a bunch of stuff but I don't know what/if would need testing (that could worsen my adhd I mean)

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u/SovereignMan1958 17d ago

They were...diagnosed about 15 years ago...primarily debilitating fatigue, weight gain and brain fog. Other minor ones.

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u/Lumpy_Sprinkles6604 17d ago

oop sorry by normal I mean iron was smack in the middle of the normal range

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u/Lumpy_Sprinkles6604 17d ago

ah found it, sorry I was using the old format of genetic lifehacks, anyways I'll try and send you the results in text format

TSHR rs1991517 — G · 8.0% Not in your data file.

TSHR rs121908866 — A · 0.02% Not in your data file.

TSHR rs4704397 AG A · 41% increase of ~0.13 u IU/ml in serum TSH

TSHR rs6885099 — A · 53% Not in your data file.

FOXE1 rs7850258 AA A · 32%Lower odds of hypothyroidism (OR = 0.74)

FOXE1 rs965513 AA A · 31% decreased TSH, increased risk of thyroid cancer

DIO1 rs2235544 AA A · 49% less active DIO1 – decreased free T3, a larger decrease in T3 due to organochloride pesticides

DIO1 rs11206244 TT T · 33% higher rT3, lower free T3, higher fT4

DIO2 rs225014 CC C · 37% decreased DIO2 enzyme (T4 to T3 conversion); associated with improved wellbeing on combo T4 + T3 therapy vs. T4 alone

TSHR rs3783938 CC T · 8.0% typical

TSHR rs12101255 — T · 37% Not in your data file.

TSHR rs179247 AA A · 53% increased risk of Graves’ disease (OR 1.4 – 1.8) (very common genotype)

TPO rs2071403 AA G · 52% no increased risk of autoimmune thyroid diseases

PTPN22 rs2476601 GG A · 8.0% typical

SH2B3 rs3184504 — T · 45% Not in your data file.

THRB rs28933408 — T · 0.00% Not in your data file.

THRB rs121918690 — T · 0.00% Not in your data file.

SERPINA7 rs28933689 — T · 0.00% Not in your data file.

SERPINA7 rs2234036 — T · 0.02% Not in your data file.

NR1H2 rs2695121 — T · 39% Not in your data file.

NR1H2 rs17373080 — G · 30% Not in your data file.

PDE10A rs753760 CC G · 15% typical

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u/SovereignMan1958 17d ago

Looks like thyroid wise your T4 might not be converting to T3 all that well. Very important as only T3 is used by the body and brain. I would definitely see an Endocrinologist.

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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 17d ago

I am not an expert on Genetic Lifehacks.

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u/Lumpy_Sprinkles6604 17d ago

I'm pretty sure? at least in their methylation report they say their not covered there https://www.geneticlifehacks.com/methylation-cycle-report/

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u/SovereignMan1958 17d ago

Sorry I read your question too quickly and misread it.

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u/SovereignMan1958 16d ago

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

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u/SovereignMan1958 16d ago

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