u/Impressive-Mouse-408

MTHFR C677T +/+ but my labs don't make sense... high B12, high folate, high homocysteine, normal MMA. What am I missing?
▲ 4 r/MTHFR

MTHFR C677T +/+ but my labs don't make sense... high B12, high folate, high homocysteine, normal MMA. What am I missing?

I've been trying to figure this out for almost 3 years and I honestly feel like I'm going in circles.

My symptoms are:

  • severe fatigue (especially mornings)
  • brain fog
  • low appetite
  • anxiety/adrenaline feeling when I wake up
  • more anxiety overall
  • tingling in my hands and feet
  • gas and bloating and burping
  • histamine intolerance symptoms

I've already ruled out a few common things:

  • Thyroid is normal (TSH + FT4)
  • No diabetes
  • Kidney and liver function are normal

Here's where I get confused...

Labs (NO B12 or folate supplementation at the time)

  • Homocysteine: 12.5 µmol/L
  • Serum B12: 1475 pmol/L
  • Holotranscobalamin: 500 pmol/L
  • MMA: Normal
  • RBC folate: 2564 nmol/L
  • Vitamin B6 (PLP): 100 nmol/L
  • Ferritin: 140 µg/L
  • Serum iron: 43 µmol/L
  • Vitamin D: 105 nmol/L
  • MCV: fluctuates between normal and Elevated (macrocytosis)
  • Cortisol**: 3 (low)**

Has anyone here seen a case like this or have any ideas about what mechanism could explain it?

I'm genuinely stuck, so I'd really appreciate any thoughts.

https://preview.redd.it/u5pfvsshjtah1.png?width=708&format=png&auto=webp&s=0b5539657ab6d28e90b50464c4ad1bc619b17d65

reddit.com
u/Impressive-Mouse-408 — 4 days ago