Signs and Symptoms of MTHFR |

Signs and Symptoms of MTHFR

janine February 21, 2018

MTHFR is a group of letters we seem to be seeing everywhere lately! But, what do they mean, and how can they affect our health?

MTHFR stands for methylenetetrahydrofolate reductase. It is an enzyme that helps to process proteins in the body. If the MTHFR genes are not functioning properly a wide array of things can go wrong in our bodies and cause many different signs and symptoms. These problems can be greatly helped once we know which genes are causing our unique issues.

The types of problems that MTHFR methylation issues can cause are wide-reaching and can often seem unrelated until you look at their origin in the body. Methylation is a mechanism that affects how your genes are expressed, and dictates how your cells are formed and function. So what signs should you look out for? Here are some signs that you may have MTHFR gene issues:


Many couples experience the heartbreaking issue of infertility. Some of these pregnancy losses may be attributed to issues with the MTHFR gene. In this case, the gene interferes with the proper formation of the baby while in the mother’s womb. It can also cause issues with the proper absorption of folate in the body. The quality of folate you take just before you become pregnant and in the early weeks of pregnancy is crucial.

All women of childbearing age who choose to supplement their diet with a multivitamin should be taking a quality prenatal vitamin that contains folate NOT folic acid. Folic acid is the synthetic form of naturally occurring folate and cannot be properly utilized in the body. Some professionals have even said that it can cause the issues it’s purported to prevent. SCARY!

You can never go wrong with consuming foods that are high in folate during pregnancy. This is an excellent way to get the nutrients your body needs in a way that nature has expertly engineered for our bodies.

If you have issues with infertility or reoccurring losses then it might be worth exploring whether or not you or your partner are having issues with MTHFR. It can affect both men and women’s ability to conceive a healthy child.

MTHFR Issues In Babies

Babies have unique signs of MTHFR issues and these can include:

  • Tongue and lip-ties
  • Stork bites
  • Hemangiomas
  • Sacral dimples
  • Facial dimples
  • Blue vein on the bridge of the nose, or “sugar bug”

You can find out more about these issues and other markers here. If you notice that your baby has some of the above symptoms you might want to read about how formula feeding can impact their health.

Poor Gut Function

Leaky Gut is another term that has become more widely known recently, and with good reason. It’s become a major health issue for people of all ages as our diets have become less nutrient dense and our mental stress levels have risen.

Leaky gut can be associated with:

  • Autism spectrum disorders
  • Histamine intolerance
  • ADHD and other behavioral disorders
  • Skin issues like eczema and psoriasis
  • Malabsorption issues where the body doesn’t properly use the nutrients you get from your food
  • SIBO (Small Intestinal Bacterial Overgrowth)
  • Autoimmune conditions

All of these things can be attributed to issues with methylation because improper methylation will lead to imbalances of our gut bacteria, and our gut bacteria is very important in helping to keep many of the above conditions in check.

Mental Health Issues

People who have issues with their MTHFR genes are more likely to have issues with their mental health. It’s been shown that mental health issues are more common these people. Issues like:

  • Anxiety
  • Major depression
  • Schizophrenia
  • Bi-polar disorder
  • Panic attacks
  • Obsessive Compulsive Disorder
  • Oppositional Defiance Disorder

How are these conditions affected by MTHFR gene issues? All of these disorders can be associated with the body’s inability to properly absorb and utilize nutrients that are essential for excellent mental functioning. The nutrients that are affected include:

  • B Vitamins
  • Essential Fatty Acids (like fish oil)
  • Folate
  • Minerals

All of these nutrients and minerals work together to perform various tasks in the brain to keep a person mentally healthy. If the body cannot properly utilize them due to issues with the MTHFR gene, then essentially the parts of their brain that need them become deficient. A brain that is deficient cannot function properly.

What Should You Do About It?

There is testing available to find out whether or not you have issues with your MTHFR gene. It is a simple saliva test that you can take in the comfort of your own home. A kit will be mailed to you, you fill up the container they provide with your saliva, and then you mail the sample back to them with the provided return shipping materials. Once they receive your information they will send you the raw data about your specific gene issues. You can then take this information and have it analyzed to get more details.

You can then take this information to your natural health practitioner and get help in putting together a healing plan for your specific issues. There is a lot you can do for yourself at home, too, once you are armed with this information.

Do you notice any signs or symptoms that you are experiencing that could be related to the MTHFR gene mutation?



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Janine is a Holistic Nutritionist and health writer, as well as a virtual business owner. She likes to write informative articles on health topics to share her knowledge with others. She is also a mother to three amazing children whom she home schools!


  1. Nice post. I learn something totally new and challenging on blogs
    I stumbleupon on a daily basis. It’s always exciting to read content from other writers and use a little something from other websites.


  2. My heart really dropped when I read this.. I suffer from depression..(now it’s ONLy seasonal, thank goodness)..and was previously diagnosed as a teen with BPD, anxiety, etc. I have had eczema since I was a baby.

    My 4 year old was vaccine free until last week when I had to get his first round of shots. I am terrified because he exhibits some of these things listed..although no foul reaction thusfar.

    My daughter also has dimples and eczema (she’s 2)..

    We held off on vaccines as long as humanly possible and I often questioned why I suffered so many different mental health issues and often wondered if vaccines inflamed me as a baby, etc.

    What a long, depressing and complicated slope.

    I want to have my son tested for this before his 2 month follow up and feel pressured for time!

    We would have never gotten these vaccines if they weren’t strongarming us in order for him to get in school 🙁 It truly depresses me terribly. I fought long and hard for him at least thinking if I delayed vaccines, allowed his system to mature, gave him tons of Omega 3/helped him detox after and allowed a blood brain barrier to form that I’d be doing this as safely as possible (with no other options)

    How can we both be tested ASAP? I cannot find the link for the saliva test.

    Please help!


  3. Hello. I learned that I have 2 copies of 1 MTHFR c6772 mutation. I was diagnosed after I had my 1st daughter at 32 weeks due to preeclampsia, then suffered a miscarriage after that. Once I was on a folate regimen I Have had 3 more children with no complications…praise God!

    I do want to know if you can suggest necessary supplements for my particular strain of it.

    I did just order the Calm and Clarity for my son who struggles with focusing and who is NOT vaccinated. I do think it could have my strain of MTHFR. Not sure how that works in children when the mother has it. All my children have my husband’s blood type.

    If you can give me wisdom and clarity this area I would appreciate it. Thank you.


  4. Can you please provide the link for the test?

    Thank you!


  5. […] discuss that more in a minute). Find out if you or your child may have an MTHFR mutation here, and check out this article by Dr. Robin Berzin for natural ways to treat […]


  6. Stork bites, sugar bug and sacral dimples are NOT indicators of MTHFR gene. Do some research people, don’t just believe everything you read.


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Hi, I’m Kate.  I love medical freedom, sharing natural remedies, developing real food recipes, and gentle parenting. My goal is to teach you how to live your life free from Big Pharma, Big Food, and Big Government by learning about herbs, cooking, and sustainable practices.

I’m the author of Natural Remedies for Kids and the owner and lead herbalist at EarthleyI hope you’ll join me on the journey to a free and healthy life!

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