MTHFR gene mutation?

Nakeshia88

Does anyone have a MTHFR gene mutation, and if so, what does it mean for your everyday diet and weight loss/maintenance?

I'm currently seeing a nutritionist who has recommended getting tested for a MTHFR gene mutation as a have a vitamin B12 deficiency, IBS, fatigue and mental illness. I'm getting my follow up B12 level test results later today, if they are low then I'm going to ask my doctor about getting tested for the gene mutations.

Whilst I'm not certain that I have a gene mutation, I was wondering what others out there have experienced after getting diagnosed with a gene mutation?

donnarnorris

Yes. I just discovered this thru a blood test. My doctor recommends active b complex with methyl folate. The mutation makes it hard for my body to move toxins. I am very healthy, but unable to lose weight....trying a different approach now.

Nakeshia88

donnarnorris wrote: »

Yes. I just discovered this thru a blood test. My doctor recommends active b complex with methyl folate. The mutation makes it hard for my body to move toxins. I am very healthy, but unable to lose weight....trying a different approach now.

How awful. I'm currently taking an active B complex, however I'm fairly sure my body isn't absorbing the B12 as it should be as there hasn't been much improvement after 4 months of taking the supplement.

Machka9

Yep, I've got that particular gene mutation, and mine is combined with a tendency toward high homocysteine levels which could lead to congestive heart failure.

But mainly what it means for me is that I clot easily. In fact, that's how it was discovered. I ended up in hospital with DVT ... my left leg absolutely chockers with clots. A rather scary situation but fortunately, my Dr was very thorough with his testing. I was on warfarin for a year, but my specialist took me off after the year. However, I do need abdomen injections every time I fly ... 12 hours before, right before, right after, 12 hours after every single flight. And I usually fly several times a year.

Otherwise, I need to take Vit B12, magnesium (normal doses of both of those) and high doses of folic acid to keep the MTHFR and homocysteine level under control.

I need to keep hydrated ... lots of water.

And I need to exercise ... get up and walk around about once an hour (more frequently if possible), and go on long walks and other exercise quite regularly.

As for diet ... I had to avoid certain foods while I was on warfarin, but that's OK now.

As for weight loss ... no problem. I've had the genetic mutation all my life, and have been slender to underweight most of my life. I gained a bit of weight about the time I was diagnosed and year after. Warfarin makes me tired. But 2 years after being diagnosed, I lost 13 lb in 13 weeks which brought me back within the "normal" range again.

Then it took the next 4 years to put on 15 kg (kg, not pounds) ... and now I've taken 14 weeks to lose 14 of those kg. All that exercise helps.

shaumom

I'm saving up to be tested for it, at the moment. It seems to be pretty common in folks with mast cell activation disorders, like I have.

Although to check - have you been tested for celiac disease already? And if it was negative, did the doctors put you on a trial celiac-compliant gluten free diet anyway? I know those symptoms can indicate a MTHFR mutation, but all those symptoms match celiac disease, as well (Many celiac disease symptoms are not very well known outside of experts who research it, sadly. This is the most up to date information I've found on celiac symptoms: http://glutenfreeworks.com/gluten-disorders/symptom-guide/).

Celiac tests have about a 20% false negative rate, so experts recommend trying the diet if you have enough symptoms, even with a negative test results. At least, in my experience (active in celiac communities, is all).

Don't know that it would help, but thought I'd ask. :-)

Nakeshia88

Negative on celiac. Right now I'm following a low FODMAP diet which is helping a little with the IBS symptoms, although I still have almost daily fatigue and daily headaches.

My B12 tests came back and levels are normal. I asked my GP about the MTHFR gene test anyway, he had never heard of the gene before. He then suggested getting my homocysteine levels checked.

Mr_Knight

Nakeshia88 wrote: »

I'm currently seeing a nutritionist who has recommended getting tested for a MTHFR gene mutation...

Waste of time and money because (a) you won't know which of the bazillion mutations you have and (b) you don't know which of the gazillion billion other gene mutations you have so there is no way to know what, if any, effect a MTHFR mutation would have, because the vast majority of conditions require multiple mutations.

If there is reason to believe you have homocystinuria, then get tested for *that*.

Machka9

Nakeshia88 wrote: »

My B12 tests came back and levels are normal. I asked my GP about the MTHFR gene test anyway, he had never heard of the gene before. He then suggested getting my homocysteine levels checked.

Many GPs won't have heard of it. You might need to talk to a blood specialist or a gynecologist. One manifestation of it are the blood clots I mentioned ... another are miscarriages.

If you are suffering from DVT or pulmonary embolism or strokes, you'll likely be sent for testing.
If you've had more than one miscarriage your gynecologist will likely send you for testing.

If your GP is offering you homocysteine testing, go for it. I had mine done at the same time as being tested for MTHFR. MTHFR raises the homocysteine levels which increases the chances of both blood clots and congestive heart failure. It was confirmed I had a variation of MTHFR (yes, there are several variations) + very high homocysteine levels. Which was probably why I was sitting in hospital with a leg twice its normal size while the pumped me full of "blood thinners".

RodaRose

Nakeshia88 wrote: »

donnarnorris wrote: »

Yes. I just discovered this thru a blood test. My doctor recommends active b complex with methyl folate. The mutation makes it hard for my body to move toxins. I am very healthy, but unable to lose weight....trying a different approach now.

How awful. I'm currently taking an active B complex, however I'm fairly sure my body isn't absorbing the B12 as it should be as there hasn't been much improvement after 4 months of taking the supplement.

Absorbable form of B 12: Methylcobalamin. Take it on an empty stomach for absorbability.
My doc has me taking 1000 mcg Folate. She likes the brand Solgar. I buy it online when the local stores do not have it.