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Confused about MTHFR Mutation

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Old 02-23-2017, 06:31 PM   #1
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Location: Henderson, NV, United States
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tinamarie0914 HB User
Confused about MTHFR Mutation

I'm not sure if I'm in the right board, but I'll give it a try. My teenage daughter was diagnosed with Homozygous MTHFR C677T a few years ago. She started taking a supplement and we saw a huge difference in her ADD/ADHD type behaviors. Her moods became more stable and things were really looking up. I neglected to mention this to her Gynecologist who put her on birth control pills. After about 8 months when they didn't help regulate her cycle, I mentioned it and the doctor was upset that I hadn't told her as BC pills can be quite harmful for women with this genetic mutation. The gynecologist was not the doctor who diagnosed the disorder and she asked for a copy of the report. When I showed it to her, she said my daughter does not have the mutation, even though I showed her in the report where it said Homozygous C677T. Her response was "she needs to have two - she only has one...she's fine. She doesn't have it." I told her my research told me that "Homozygous" means she has two copies of the mutation and she again told me my daughter is fine. She said to stop taking the supplement, that she didn't need it. That was about 45 days ago and I am now starting to see the old behaviors start up - easily stressed out, easily angered and no ability to control the anger, anxiety, etc. I feel I made a bad decision in taking her off the supplement, but now I worry that she's back on BC pills too when maybe she shouldn't be. Does anyone understand the MTHFR C677T? I'm wondering if someone can help me understand what my doctor meant when she said, "she needs two copies". I just want to do the right thing by my daughter and I'm worried that I'm not. I apologize for the long post...thank you very much!!

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Old 05-02-2017, 10:52 AM   #2
Join Date: May 2017
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cagegr HB User
Re: Confused about MTHFR Mutation


Full disclosure: I am far, FAR, from an expert, and know very little about the mutation. I also have no idea about any possible connection to ADHD. I am in no way medical professional.

About the doctor: I think it is safe to say that there’s a good chance she’s wrong. There are 3 types of the mutation: heterozygous, homozygous, and compound heterozygous.

To sum up what the article said (and my memory of 11th grade science class!):
Heterozygous CT: CT – one copy of mutant allele. Little effect.
Homozygous CT: TT – two copies of the same mutant allele. Severe effect.
Compound Heterzygous: CT at one spot (677), AC at another (1298). Very severe effect.

Your daughter has “homozygous CT”, or TT, which can possibly effect enzyme production by up to 70%.

Now, what the doctor could have meant by “She only has one”.

It may be tough to trust another doctor, but I would absolutely get a second opinion. I would say, don’t have her start taking the medicine again until a more qualified doctor says so – it’s usually better to err on the side of NOT putting chemicals in your body – but make them slow down and look at it more carefully if they seem to be making a mistake.

I hope that helped!

Last edited by Administrator; 05-02-2017 at 08:17 PM.

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