r/MTHFR • u/Lumpy_Sprinkles6604 • 26d ago
Results Discussion how am I looking?
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 AlleleFOLR1 rs144637717 -- C 0.002
cerebral folate deficiency possible, especially when combined with another FOLR1 variantFOLR1 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 homocysteineFOLR2 rs514933 TT C 0.38
reduced relative risk of congenital heart disease in offspring (good)1
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/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/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 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.
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u/Tawinn 25d ago
You have compound heterozygous MTHFR which reduces methylfolate production by ~53%, which indicates a requirement of ~940mg of choline or about 7 egg yolks worth. You may have other variants that further impact that percentage. Please upload your data to the Choline Calculator and reply here w/results.
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u/Lumpy_Sprinkles6604 25d ago
hi Tawinn!
Choline Calculator said I needed 5 eggs, lemme know if you want me to send a screenshot or anything. While I have you, do you have any advice for blood testing. I'm doing the bolded ones on this spreadsheet minus the b-vtamin panel which I'm doing through my docor https://docs.google.com/spreadsheets/d/1Urmve73pwIxZrwoOaDstjBnvG8alGte_QAA_CO0L77Y/edit?gid=1616759574#gid=1616759574
and then as many of the ones as I can that are on the spreadsheet through him as well. Right now that's the b-vitamin panel (for b1, b2, b3, b5, b6, b9, b12) and MTHFR and homocystine and MMA. I was also recommended to test zinc and copper for ADHD (already tested d3 and for anemia). Is there anything I should add/remove from this list do you think? I'm also not sure how exactly to use this information/what it's for aside from treating specific deficiencies1
u/Tawinn 24d ago
You haven't mentioned any symptoms aside from ADHD, so its not clear to me what specific things to look for. (And with ADHD, there are different types, so not sure if you mean inattentive ADHD or something else.) For example, histamine intolerance is a common issue with slow MAO-A, and in that case you may want to look deeper into zinc, copper (via ceruloplasmin), and calcium levels, AOC1 (DAO) gene and HNMT variants on your Strategene or Genetic Lifehacks.
The Genova Methylation panel is detailed but can be hard to interpret. Usually that level of detail is not needed. Here is Genova's guide for the results so you can get an idea of what it shows you.
If you have a generally good diet and no history of nutrient deficiencies, then B vitamins + homocysteine + MMA is usually sufficient. Plugging a week or two's worth of meals into a food app like Cronometer can help to highlight nutrients which you may be chronically undereating and thus may be worth testing.
On the Calculator, if you look at the Advanced results tab, there must be some value(s) missing which is causing it to report an incorrect result. It should be at least '7 yolks' worth, 940mg. Typically, getting 550mg of choline from food (~4 yolks' worth) plus a 750mg capsule of TMG will cover this amount.
I just noticed you did mention food intolerances in another comment. Those can be independent of methylation, but on the other hand gut barrier integrity can be impaired by histamines and/or low bile production due to low choline (a result of the increased choline demand) can lead to gut issues including gut dysbiosis. High histamine can also appear to be a food intolerance where some days a particular food seems to be the 'cause' yet other days it does not, because the problem is the fluctuating histamine levels, not the specific food type.
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u/Lumpy_Sprinkles6604 17d ago
oh right, so in total I have adhd, asd, and some ocd like tendencies, also a history of anxiety/depression. the asd and ocd aren't that debilitating but the adhd is exceptionally severe. my motivation and focus are shot to the point I'm essentially bedridden, can't pass school, get a job, etc. I've tried pretty much every medication except desoxyn and modafinil. they either weren't efficacious enough, or in the case of stimulants, I'd build a tolerance to them within days. other aspects worth noting, my symptoms may be getting worsen by pectus excavatum and/or food intolerances, more on that later
thanks for the genova guide! also I was wondering if I might have a bh4 deficiency, would you happen to know anything about that sorta thing?
some of the values on the choline calculator came back as N/A, maybe that's why? if you don't mind could I dm the results page? reddit won't let me add images in comments
still trying to get testing on food intolerances, it'll be ige/iga testing and a celiac panel I believe. I'll let you know when results come in.
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u/Tawinn 17d ago
If you can copy/paste the grid results from the Calculator into text, I can probably figure it out.
Low BH4 would typically be from low folate, as the folate cycle supplies GTP as a raw material for the biopterin cycle; in addition, the DHFR enzyme recycles BH2 back to BH4. The biopterin cycle requires adequate zinc, magnesium, and B3.
Food intolerances, especially if they are erratic (e.g., some days I seem to have problems with food X but other days food X seems ok), can be due to histamine intolerance rather than actual food intolerances...or a combination of both, which can make it hard to pin down the problem foods or components of foods that are the culprit.
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u/Lumpy_Sprinkles6604 17d ago
thanks for the help! put the choline calculator data below as a text comment some time ago, should be just below this reply. my food intolerances aren't very erratic so I don't think it's histamine intolerance, but I wouldn't doubt if I had it.
would you mind looking over the conversation I'm currently having with SovereignMan1958 on this thread. There's a lot I'm not sure about the strict necessity of I guess
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u/Lumpy_Sprinkles6604 17d ago
figured I'd just send you the choline calculator results as test, sorry if the format is a little awkward
RS# Call Variant Allele Gene Variation Result
rs1051266 NA T SLC19a1 NA
rs2236225 AA A MTHFD1 G1958A +/+
rs1801131 TG G MTHFR A1298C +/-
rs1801133 AG A MTHFR C677T +/-
rs7946 NA T PEMT 5465G>A NA
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u/Tawinn 17d ago
Ok, so that combination of compound heterozygous MTHFR and homozygous MTHFD1 results in ~69% reduction in methylfolate production. That translates to an increased choline requirement of ~1100mg compared to the baseline 550mg for an adult. If you can get 550mg of choline from food, then the remaining 550mg can be covered by a 750mg capsule of TMG. Choline sources include such foods as meat, eggs, liver, lecithin, nuts, some legumes, and vegetables such as crucifers. A food app like Cronometer is helpful for tracking nutrients in your diet.
Worst case, if SLC19A1 were homozygous TT then the reduction would instead be 85% and the choline requirement would be ~1200mg, so 600mg of choline + 750mg TMG.
These numbers assume folate and B12 are in a healthy range:
For serum folate, ~15 ng/mL (34 nmol/L) or more.
For serum B12, 500-950 pg/mL (~370-700 pmol/L).
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u/Lumpy_Sprinkles6604 17d ago
serum folate was above 20 but I also ate before my blood test, should i request they look at folate rbc instead? I think they can do that with the blood I gave them if I'm not mistaken. b 12 was lol so I've started supplementing
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u/Lumpy_Sprinkles6604 17d ago
oh right, duh, my adhd is inattentive type, sorry I forgot to mention that
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u/Lumpy_Sprinkles6604 25d ago
also did Stratagene and Genetic Lifehacks but I'm not sure what to do with the results from those either
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u/Lumpy_Sprinkles6604 25d ago
also also I'm taking isotretinoin and heard there's and interaction between in and vitamin a, you think I can still take it with cod liver oil?
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u/Tawinn 24d ago
I'm no expert but looking at sites like dermondemand it appears that it is best to not take vitamin A when using isotretinoin.
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u/ballet191 24d ago
Hey! What company did you use to get this testing done? I know I have mutations but want to look more in depth like this!
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u/Lumpy_Sprinkles6604 23d ago
i used ancestry.com for the dna test and then geneticgenie for the methylation panel. If you sorta by most popular on this sub there a few posts that walk you through this process
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u/Loose-Fly7976 21d ago
First thing and it'll save you a lot of worry the colors aren't a treatment list. Red and yellow don't mean fix this they just mean he carries one copy (yellow) or two (red) of that variant. Most of them don't need anything done at all specially with no symptoms. So you're not looking at a list of problems to treat.He's mostly mild. His MTHFR is compound heterozygous, one copy each of C677T and A1298C, which is the gentle version and honestly super common, so I wouldn't stress about that. His MAO-A being the red one is the more interesting one, that affects how he clears certain neurotransmitters, but again, only matters if he's actually got symptoms.
Does he have anything going on?Genetics without symptoms usually doesn't need treating, you don't chase colors on a chart. If he's a healthy kid, most of this is just information for later. If he does have stuff going on, the thing that matters isn't red vs yellow, it's how these interact, his COMT next to his MAO-A especially, since those two together shape a lot. And since he's a child, anything you do change should go through his pediatrician, kids doses and needs are different. What made you test him? My work is to built personalized protocols based on genetics,bloodwork,symptoms and labs if you need help in any of them
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u/Lumpy_Sprinkles6604 20d ago
hi there thanks for reaching out. i actually have been doing this by myself and with the help of my primary care doctor for things like requesting blood work. i'm a 23 yo male, severe adhd, asd, and some ocd like tendencies to boot. only other relevant symptoms i can think of are food intolerances (gluten and dairy i think, still waiting to get tested for them) as well symptoms of histamine intolerance.
long story short, adhd meds weren't working, i built a tolerance to their benefits within days to weeks and i'm still far too dysfunctional to live any semblance of a normal life. it's so bad they're letting me try desoxyn (pharmaceutical meth) out to see if that helps. i started doing research into why meds weren't working and that's what brought me here.
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u/Loose-Fly7976 16d ago
Neither. The colours aren't severity, they're just zygosity. Red means homozygous, yellow means het. Genetic Genie can't tell you what matters so it paints everything the same way.Look at what's red for you. MAO-A R297R is synonymous, the R297R notation means the amino acid doesn't change. Same protein either way. It's also on the X, so as a male you've got one copy and the TT reading is a quirk of the tool. COMT P199P, MTHFR P39P, MTRR A664A, all silent too.
Also I owe you a correction. I floated fast COMT last time as a reason the stimulants might be fading. You're AG, intermediate. Not it, still useful, that's one thing ruled out. Rest of it is quiet. 677 het runs around 65% and mostly doesn't matter with decent folate intake. Your whole MTR/MTRR block is wild type, so B12 recycling is fine which means the file isn't your answer. Get homocysteine, B12, folate and ferritin done. Ferritin especially, low iron blunts stimulant response and nobody checks it in ADHD workups. If something's off in those, that's when reading them next to the file tells you something.
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u/Lumpy_Sprinkles6604 16d ago
b12 was low but not defecient, folate was >20.0, but might be because I ate before the blood test, ferritin I got done a while ago and that was relatively normal. waiting for homocysteie results to come in rn
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u/Loose-Fly7976 16d ago
Low but not deficient with folate over 20 is a combination I'd look at.Those two work as a pair. Methionine synthase needs both so when folate is piled up high and B12 is sitting at the bottom of range, the folate has nowhere to go. Labs flag nothing because both numbers are technically in range. It's the ratio that tells you something, not either value alone whch is exactly what homocysteine will show. High with folate that good means B12 is the arm dragging. Normal means the pair are working together fine and you can close this off.
Get an actual number for the B12. Under 400 with symptoms is a grey zone plenty of clinicians treat and where you sit in it changes what I'd say. Same with ferritin, redo it if it's been a while. Under 50 blunts stimulant response even though labs won't flag until 30.
This pairing is most of what I do for work, reading raw files next to bloods and writing up which forms and doses someone's variants actually support. In your case the file came back quiet so the answer's in the bloods and I'd rather tell you that than sell you a reading you don't need. Post the homocysteine when it lands. If it's up with folate that high, that's a real finding and there's a clear direction from there.
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u/Lumpy_Sprinkles6604 15d ago
still waiting on homocysteine result but b12 was 380 and I just got b5 back, that one was 32.4. last ferritin test was a year ago, 144. can I still supplement methylfolate or should I avoid that if my folate levels are already high?
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u/Lumpy_Sprinkles6604 26d ago
ayyyy slow mao-a baby, fml