I have MTHFR and a bunch of lab results, but I am not sure how to proceed?

Hey folks, I wanted to post here since the MTHFR/B12 subs helped me understand this issue and without it I wouldn't even suggest it to my doc.

As the title states, I came back compound heterozygous with the MTHFR mutation. My understanding is that it means functionally the enzymes are working at 40-60% efficiency. This finding is well supported, and my doc and I decided I will start taking the proper B vitamins/cofactors, Vitamin D + K2, and magnesium glycinate.

Before I share my issues, I wanted to share some noteworthy results:

Abnormal:

  • Homocysteine 16.2 umol/L — elevated (May 2026)
  • RBC Folate 382 ng/mL — below normal (Jun 2026)
  • MMA 307 nmol/L — elevated (May 2026)
  • RBC Magnesium 3.7 mg/dL — below normal (May 2026)
  • Vitamin D 29 ng/mL — below optimal (May 2026)

Confirmed diagnoses

  • UARS confirmed on gold-standard in-lab PSG (Oct 2022) — arousal index 26.2/hr, sleep efficiency 67.4%, never treated
  • LPR confirmed independently by GI (Dec 2024) and ENT (Mar 2026) — cobblestoning on scope
  • EAEC detected on PCR stool test (Dec 2024) — never confirmed cleared
  • Compound heterozygous MTHFR — C677T + A1298C (Jun 2026)
  • Chronic inactive gastritis on biopsy (Nov 2024)
  • Two nasal surgeries — zero symptomatic improvement

I know this community is for MTHFR specifically so I may be out of scope here, but I have a hard time believing all of this stems from a functional B12 deficiency, especially seeing my RBC folate and other blood labs relatively normal. My doctor is not thinking it's an autoimmune thing i.e. pernicious anemia. I am curious if it's low stomach acid / SIBO (glucose test pending!)

As for symptoms, I have a whole bunch, I'll limit to top contenders

  1. Chronic fatigue / unrefreshing sleep
  2. Morning brain fog
  3. Extreme shortness of breath despite no structural issue / asthma
  4. Autonomic like symptoms i.e. cold feet, sweaty hands, difficulty with balance and walking straight (mild, nothing crazy)
  5. Chronic inflammation of airway, particularly nose. (I assume it's pepsin from LPR)
  6. Slow gut motility
  7. Acne in weird places like shoulders, back, forearms

What would you do in my shoes?

reddit.com
u/Willy988 — 1 day ago
▲ 3 r/MTHFR

I came back with MTHFR being positive: compound heterozygous. But, it looks like my issues may not be so simple... thoughts?

Hey folks, I wanted to post here since the MTHFR/B12 subs helped me understand this issue and without it I wouldn't even suggest it to my doc.

As the title states, I came back compound heterozygous with the MTHFR mutation. My understanding is that it means functionally the enzymes are working at 40-60% efficiency. This finding is well supported, and my doc and I decided I will start taking the proper B vitamins/cofactors, Vitamin D + K2, and magnesium glycinate.

Before I share my issues, I wanted to share some noteworthy results:

Abnormal:

  • Homocysteine 16.2 umol/L — elevated (May 2026)
  • RBC Folate 382 ng/mL — below normal (Jun 2026)
  • MMA 307 nmol/L — elevated (May 2026)
  • RBC Magnesium 3.7 mg/dL — below normal (May 2026)
  • Vitamin D 29 ng/mL — below optimal (May 2026)

Confirmed diagnoses

  • UARS confirmed on gold-standard in-lab PSG (Oct 2022) — arousal index 26.2/hr, sleep efficiency 67.4%, never treated
  • LPR confirmed independently by GI (Dec 2024) and ENT (Mar 2026) — cobblestoning on scope
  • EAEC detected on PCR stool test (Dec 2024) — never confirmed cleared
  • Compound heterozygous MTHFR — C677T + A1298C (Jun 2026)
  • Chronic inactive gastritis on biopsy (Nov 2024)
  • Two nasal surgeries — zero symptomatic improvement

I know this community is for MTHFR specifically so I may be out of scope here, but I have a hard time believing all of this stems from a functional B12 deficiency, especially seeing my RBC folate and other blood labs relatively normal. My doctor is not thinking it's an autoimmune thing i.e. pernicious anemia. I am curious if it's low stomach acid / SIBO (glucose test pending!)

As for symptoms, I have a whole bunch, I'll limit to top contenders

  1. Chronic fatigue / unrefreshing sleep
  2. Morning brain fog
  3. Extreme shortness of breath despite no structural issue / asthma
  4. Autonomic like symptoms i.e. cold feet, sweaty hands, difficulty with balance and walking straight (mild, nothing crazy)
  5. Chronic inflammation of airway, particularly nose. (I assume it's pepsin from LPR)
  6. Slow gut motility
  7. Acne in weird places like shoulders, back, forearms

What would you do in my shoes?

reddit.com
u/Willy988 — 1 day ago

Experienced developers, would you consider a masters degree from WGU?

Thinking about getting a masters while working full time as a developer. I have over 2YOE at my current role, and a BS SWE from WGU in 2024.

Honestly my job is secure, pay is alright, and I like it. I have a lot of flexibility and want to lock in and beef up my resume since the only thing I feel is my current role is too easy and uses legacy systems- I want to stay up to date.

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u/Willy988 — 8 days ago

As an absolute beginner using Ableton Live Lite 12, best way to get started with drums?

I'm wanting to do some uplifting/balaeric trance and one thing I'm finding is I can't get the drums right. I tired using ableton's drum rack for the 808 and 909 but they don't sound trance-y, more like hip hop or something. I don't know if I have to adjust settings to the drum racks, or is using samples the only way to go?

When I looked up this question on Reddit, people usually just say to sample drums. I was hoping to have some more control... do people just use one shots/samples or do they program the drum kit correctly?

I'm running my akai mpk mini mk4, and it has some nice drum pads I'd love to utilize.

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u/Willy988 — 16 days ago

Enteroaggregative Ecoli never treated, how to advocate for myself to doc?

Hey guys,

I've been dealing with "functional" health issues for as long as I can remember. I'm going to try to not ramble off topic about health problems I'm dealing with that are probably unrelated (i.e. my UARS), so please bare with me...

In late 2024, I went to a GI doc and did a PCR stool test which came back with an abnormal flagging for EAEC + endoscopy biopsy with the result of "chronic inactive gastritis + silent reflux (LPR)".

This doctor proceeded to ask if I have diarrhea which I replied "no". He then replied something along the lines of "ok, it's not an issue at all since you don't have diarrhea", prescribed me GasX and then sent me on my way. My biggest regret was not advocating more for myself, as I was dealing with so many little things that I had became desensitized to them, like:

  • Mild abdominal pain/cramping/borborygmi post meal
  • Mild bloating
  • Mild Tensemus
  • Extreme fatigue/malaise
  • Silent reflux/LPR as mentioned
  • suspected malabsorpiton which I will share below

I say mild because I've heard stories of more extreme cases so I don't want to blow it out of proportion, but I'm dealing with extreme fatigue, brain fog, inflammation, and other systemic issues that may not be directly caused by EAEC/gut issues but could be a downstream effect.

Last month, I also seemed to have a functional, cellular b12 deficiency:

MAY 2026 ---- 

  • Homocysteine- 16.2 umol/L (Abnormally High)
  • Vitamin D, 25-Hydroxy Tot- 29 ng/mL (Functionally low)
  • Magnesium RBC- 16.2 mg/DL (Abnormally low)
  • Methylmalonic Acid (MMA)- 307 nmol/L (High)
  • Vitamin B6- 19.1 ng/mL
  • Vitamin B1, Whole Blood- 116 nmol/L

None of the above text individually has raised alarm to any doctors I have seen, so I am wondering what to do, how to advocate?

My current thought process from lurking here:

  1. Rifaximin since I am against heavy antibiotics
  2. Targeted probiotics to tasrget the mucus brick stacked structure the EAEC would be hiding in
  3. Sublingual methylated b12 + magnesium glycinate for the abnormal results, which may be caused by the gut not being able to absorb optimally?

Would love to hear anyone's advice how to advocate to US medical professionals, since EAEC is shrugged off as "travelers diarrhea" which I do not have and hence have been not taken seriously at all.

reddit.com
u/Willy988 — 18 days ago

B12 allegedly normal, but lots of other results say otherwise... what to make of it?

I was so sure I had a B12 deficiency up until a couple years ago. Then, I did more testing and the results just don't add up, and allopathic docs don't know/care about it.

Just a month ago I got confirmed LPR (silent reflux) diagnosis from my ENT along with:

  • Homocysteine- 16.2 umol/L (Abnormally High)
  • Vitamin D, 25-Hydroxy Tot- 29 ng/mL (Functionally low)
  • Magnesium RBC- 16.2 mg/DL (Abnormally low)
  • Methylmalonic Acid (MMA)- 307 nmol/L (High)
  • Vitamin B6- 19.1 ng/mL
  • Vitamin B1, Whole Blood- 116 nmol/L

And a month before that I had:

  • Iron - 130 mcg/dL
  • TIBC - 342 mcg/dL
  • Iron Saturation - 38%
  • Ferritin - 54 ng/mL
  • WBC - 4.3 thousand/uL
  • RBC - 5.53 mil/uL
  • HgB - 16.1 g/dL
  • HcT - 48%
  • MCV - 86.8fl
  • MCH - 29.1 pg
  • MCHC - 33.5
  • RDW - 12.6% Plt - 189 thousand/uL

Yet two years ago, my folate was @ 7.8 + B12 was at 493 pg/ML which may not be optimal but was not flagged...

I don't want to spam this post with more tests but I think this shows primarily MMA, Homocysteine, and magnesium being abnormally low.

What to make of it? I want to advocate for myself to these doctors, as they seem to look at these tests in isolation, searching for an acute problem rather than a functional one. I was pondering if I may have SIBO, MTHFR gene mutation, etc...

EDIT: read the automod reply and I am seeing the B12 serum test from 2 years ago does not exclude b12 deficiency, which makes sense since RBC magnesium was flagged but not serum.

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u/Willy988 — 20 days ago

Abnormally low RBC magnesium results, where to go next?

I’ve done every “normal” blood test doctors in the US will typically be trained to provide, and nothing was “abnormal”. Sure I would say I had suboptimal results but nothing to make these doctors bat an eye since it was within the green, non abnormal band.

But recently after advocating for myself to receive more testing, I got 2 abnormals and a borderline high in order:

- abnormally high Homocysteine above 16
- abnormally low magnesium RBC at 3.7
- borderline high MMA

Basically my goal is to find a path as to explain my various health problems which always were brushed off as too general etc.

Does anyone have any idea how to proceed with doctors who are potentially ill informed of these sorts of things?

reddit.com
u/Willy988 — 22 days ago
▲ 6 r/MTHFR

Doctors don’t know why to do with my high Homocysteine and low RBC magnesium

My RBC magnesium was flagged abnormally low @ 3.7 mg/dl, homocysteine @ 16.2 umol/L. The rest of the stuff we tested was pretty normal: b1, b6… with functionally borderline Vitamin D @ 29 ng/ML and MMA @ 307 nmol/l (not flagged as abnormal, but I’d say it’s not quite normal either perhaps).

My doctor simply ordered a retest for confirmation + b12 (which I suspect is serum, and I’ve done this multiple times in the past with pretty normal numbers I.e. last time was @ 493).

Although the litany of other tests have mostly been fine, I’m sure someone well versed would say functionally not optimal. Anyways- my ask to my doctor is probably going to be for MTHFR variants, but I was wondering if anyone here has any thoughts in this case?

The reason I come here instead of consulting with the doc is because it seems that it’s not common for docs to be trained on this niche topic, although mines is willing to work with me here which is great…

Thanks in advance for any insight or tips! Trying to stay within insurance here, so I’ve been avoiding the advice I see here about DNA tests out of pocket.

reddit.com
u/Willy988 — 22 days ago

Wanting some advice on courses/sound packs to start making balaeric trance

I don't have music theory and just got my first midi controller a few months ago. I know people usually say you can find everything for free on youtube, but when you're a complete newbie, I feel like the guidance is very helpful.

I also found this, saw people saying good things about sonic academy: https://www.sonicacademy.com/products/classic-balearic-trance-dna-by-sonic-academy

Right now, I'm just running ableton live lite 12, using a few plugins like akai studio sound collection and planning to mess with spitfire and vital synth.

Does anyone have any pointers or direction for someone with 0 music theory? I see so many options out there I am a bit overwhelmed lol.

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u/Willy988 — 26 days ago
▲ 6 r/dotnet

Considerations to make when using ML.NET in production?

Before anyone comments how ML.NET is too high level and torchnet is superior, this is what works for us given constraints. Just wondering if anyone uses it and if there are any good rules of thumb.

We are specifically ingesting SQL data for logistics. We don't need anything fancy anyways, so high level ML net is fine.

u/Willy988 — 1 month ago
▲ 7 r/UARS+1 crossposts

After two nasal surgeries that allegedly helped (but doesn't feel like it did) I have some thoughts on what is wrong and am curious if anyone has a response...

I've been doing my own research for a while, since my two turbinate reductions + septoplasty (second time had some stitches to prevent collapse) didn't really help.

The good news is I guess structurally it's fine, but I feel insanely inflamed, and tired, all the time.

To cut to the chase, here's my current opinion: I think my chronic rhinitis (severe hay fever, mild-high dust mites) contributes to my mucous tissue being inflamed. I also have confirmed LPR, which I am sure results in the pepsin inflaming my nose (I already have confirmed throat marbling). Maybe throw in symptoms from "mild UARS that just needs breathe right strips" (as my sleep study doc put it despite having an arousal index of 26.2) and that sums up what I am thinking.

I'm curious to hear what others thoughts are on my presentation of symptoms... kind of thinking if it may be some gut dysbiosis since I do have an abnormal amount of EAEC (type of ecoli) causing the LPR as well. Oh and few more blood tests that may be unrelated but flagged as abnormal:

(1) Homocysteine 16.2 umol/L

(2) Vitamin D 29 ng/mL

(3) WBC 3.4-4.3 x10³/uL

I've been browsing this sub for a while and saw some people saying how the LPR can be induced by UARS because of negative pressure, so not sure if it's that or poor gut health. Also noticed my nasal cycle is very apparent, popping or opening throughout the night, changing sides... apparently it's normal though.

I'll be going to Stanford University Sleep Clinic, although I'm not speaking to a researcher, I am still hopeful to get my UARS finally taken seriously since they did discover UARS. All my previous docs besides the sleep lab tech had no idea what UARS is. Hoping anyone can chime in or give advice so I can make my visit fruitful!

It's so hard juggling all these symptoms and figuring out how they connect especially when it feels like I am the one leading the investigation, not the docs.

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u/Willy988 — 1 month ago