Test results - possible MTHFR defect?

Hi all,

I posted a few weeks ago with my thyroid bloods, but it's taken until now to get my nutrient test results back - here are the results for your kind interpretation:

Free T3: 3.9pmol/L (2.6 - 5.7)

Free T4: 12.4pmol/L (9.2 - 21.0)

TSH: 0.04 mU/L (0.30 - 4.40)

Vitamin B12: 1500ng/l (Ref range 130-900) High

Folate: 25.2ug/l (3.1-20) High

Ferritin: 61 microg/l (15-300)

Vitamin D: 96.2nmol/l (>50 considered adequate)

I'm thinking MTHFR defect? My functional medicine nutritionist has just ordered the ONE test from Genova Diagnostics, and has a suspicion that I will need the further DNA test to check for gene mutations. Anyone else have an experience of this?



7 Replies

  • Jen, several members have had the DIO2 test which confirmed impaired gene affecting T4 to T3 conversion. It can also increase the risk of osteoporosis. Enter DIO2 in the HU search box to see posts.

    High levels of folate and B12 may be due to supplementing. If not, you need to investigate why they're high.

    Eating more iron rich food may improve your ferritin to the optimal range 70-90.

    VitD is good but we all need to supplement D3 Oct-April when ultraviolet light levels are too low to stimulate vitD.

  • Thanks for that Clutter. My nutritionist is looking into it now, it looks like there is some gene polymorphisms at work here. No wonder 2 years of Paleo diet, supplements, Erfa and goodness knows how many other changes have proved fruitless so far. Ah well, we'll get there in the end!

  • Hi,

    Yes i had the gene test done and i had mutations with that gene along with several others.

    I was not too inpressed with nutrionist who was giving me the reults. But from what i have found out this mutation is a major one in gene testing.

  • Hi, sorry to hear that, and that your experience with your nutritionist was not great. Have you found a treatment plan to suit you now though?

  • Not really...still trying to find balance with thyroid meds. Iv not given up glutten but taking vitamin supplements and generally trying to reduce stress.


  • Just incase you havent seen these resources, there is some great info on treatment on this website stopthethyroidmadness.com/m... and there are links on that page to other sites that you can get detailed info on how to treat your specific mutations.

    I have severe gastro symptoms along with all the other stuff (like chronic fatigue, pain, blood sugar control problems and adrenal dysfunction), and I found that changing my diet and lifestyle has huge effects on my symptoms - when I gave up gluten, and then all grains, I found it much easier to control my blood sugar and my anxiety and depression lifted.

    I hope you find a way that suits you soon. Keep fighting the good fight.


  • Thats really helpful..thanks, i need to read up and sort all of it out.

    You appear to have worked really hard to aid your revovery, hope you continue to improve.

    Thanks again


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