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