Tuesday, 17 May 2016

Such a MTHFR

No... I'm not swearing. Okay I am a little bit. MTHFR if you haven't heard of it is a gene mutation, one that I so fortunately *insert eye roll* have homozygous... or at least that's what I recall being told (though would I have 2 abnormal copies for each mutation if that were the case... need to do more digging). If I am correct, that would mean both parents passed it on to me. Thanks mom and dad! jk... kind of ;)

MTHFR Deficiency
Mutation: c.1286A>C (p.E429A) (1 abnormal copy)
Mutation: c.665C>T (p.A222V) (1 abnormal copy)

I carry one copy of the E429A (also known as A1298C) mutation and one copy of the A222V (also known as C677T) mutation in the MTHFR gene. Off my report from recombine:
Females with one E429A and one A222V mutation have a 2-3 fold increased risk for having a child with neural tube defects, i.e. a 2 to 3 in 1000 risk instead of a 1 in 1000 risk. We discussed that MTHFR deficiency may also be associated with an increased risk for pregnancy loss [22313097]. It is recommended that women with MTHFR deficiency who are pregnant take folate supplements before and during their pregnancy to reduce the chance of NTDs. Folate supplementation is thought to decrease the risk of NTDs by approximately 80%.

Okay so what is it, why is it important and what can be done?
These are all things that I've been looking into recently. My RE put me on Metanx which I was taking during our last IVF but I since stopped. I mean, $75 a month out of pocket for something I didn't think I needed anymore. Well maybe I'm wrong and need to pick it up again...

I've been doing some reading and the info is really interesting. Here's a comprehensive video with the rundown. If you have MTHFR gene mutation its a must watch. Don't let your RE tell you it's no biggie.


Folic acid is man-made and synthetic (to avoid neural tube defects) - designed for long shelf life. Great for average population but NOT for someone with MTHFR (like me). It's not found in nature like Folate.


Some conditions they cause are listed in this table below. I can confirm myself that I have the following: Infertility (obviously... that's why this blog exists y'all), Allergies, Insomnia, Chronic Fatigue Syndrome, Anxiety, ADD, and Immune Deficiency.

sciency peeps:

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