Testing Your Children for MTHFR: The What, When, Why, and How

Testing Your Children for MTHFR: The What, When, Why, and How

Katie Stone - Naturopath

Written By:

Katie Stone - Naturopath
Jamie Hope - Founder of Methyl-Life

Medical Reviewer:

Jamie Hope - Founder of Methyl-Life
Kari Asadorian - Bachelor of Science in Nursing

Edited By:

Kari Asadorian - Bachelor of Science in Nursing

Updated On:

March 26, 2025

Table of Contents

    MTHFR gene mutation, Methylfolate deficiency, Folic Acid supplementation, you’ve heard it all by now. Despite it being all over the internet and social media, many people are still clueless about the importance these three things have on your child’s daily health -- which is one of the most significant reasons many children won’t get tested for it.


    It’s believed that nearly 40% of the entire population will have a mutation in at least one of their copies of the MTHFR gene, yet a majority of these people will go their entire lives without knowing it. In some cases, people will carry two variants of the mutation, making matters even worse.


    Learning how to take control and manage your MTHFR mutation at an early age can drastically change the course of your life for the better. There are even steps a mother can take before the child is born to help reduce the risk of folate deficiency.


    We understand this is a complex subject that many people don’t know about. That’s why we’re going to break down everything you need to know about MTHFR in children, including the various signs and symptoms, the testing process, and different ways to manage the mutation.

    What Is MTHFR?

    MTHFR, short for methylenetetrahydrofolate reductase, is a gene found in our DNA. Every single person on this planet will have two copies of the MTHFR gene, one from each parent. Its main responsibility is to provide the correct coding for a specific enzyme. Believe it or not, this enzyme is called the MTHFR enzyme.


    Once the MTHFR gene produces the MTHFR enzyme, it can start to work its magic on the body. In addition to helping the body process amino acids -- like homocysteine -- the MTHFR enzyme plays a major role in the conversion of Folate into L-Methylfolate. Without this extremely important reaction occurring throughout the day, the body wouldn’t be able to use Folate properly.


    Not to confuse you any more, but Folate is the natural form of Vitamin B9 -- as opposed to the synthetic form of folic acid. Folate is an important part of our daily diet, along with the other B-complex vitamins. Keep in mind that Folate is a water-soluble vitamin, meaning it’ll be excreted out of the body if not properly converted into Methylfolate.


    Now that we understand what the gene is, how it influences the enzyme, and what the enzyme does to Folate, let’s discuss the importance of Methylfolate. Once the body converts it from Folate, it will play a large role in methylation -- yet another process occurring in the body daily.


    Methylation is essential for gene expression, detoxifying the body, synthesizing neurotransmitters and hormones, producing energy, building and repairing DNA, enhancing the immune system, reducing histamine blood levels, and regulating our mood throughout the day. As you can see, the MTHFR gene is a lot more important than you’d think.

    How Do Children Get MTHFR Mutations?

    As important as the MTHFR gene is, it won’t always be working in your favor. Over the past few decades, scientists have discovered nearly seventy different mutation variants of the MTHFR gene. While some variants are more dangerous than others, they will all lead to the MTHFR enzyme being less effective at converting Folate into Methylfolate.


    Going back to what we were saying earlier, every single person will receive one copy of the MTHFR gene from each parent. Likewise, it’s possible for someone to have a mutation in both copies -- this would be the worst case.


    So, what does this have to do with your child’s health? Well, much like your parents passed down the MTHFR gene to you, you’ll do the same for your biological children. If you hold one variant of the gene, there’s a chance it gets passed down. If you hold two variants, then your child will definitely get one.


    Taking it a step further, it’s possible for your partner to also pass a variation down to the child. With that being said, it’s possible for your child to get two variants if both parents have at least one.

    Of all the variants that have been discovered, there are two that raise the most concerns:

    • C677T
      having one copy can reduce MTHFR productivity by 30%, with two copies of the variant (mutation) possibly causing a 70% reduction in productivity.
    • A1298C
      this is sometimes seen as the less dangerous variant, because having two copies can lead to a 40% reduction in MTHFR efficiency, but doctors who know MTHFR find both of these mutations are having an impact on health.


    These variants can lead to a wide range of issues with your child’s health, but learning to manage it early on can help reduce the symptoms and damage.

    Symptoms of MTHFR In Children

    Since most people don’t know what the MTHFR gene mutation is, they won’t be keeping an eye out for any of the signs and symptoms of MTHFR. At the same time, because the signs and symptoms will often fall in line with other common diseases and illnesses, they can get overlooked.


    While it can be extremely easy to look past the mutation in lieu of other possible diagnoses, you shouldn’t rule it out as a potential underlying cause contributing to your child’s overall health.

    Let’s take a look at some of the symptoms related to the MTHFR mutation:

    • Cleft palate, cleft lip, tongue tie, and lip tie
    • High levels of stress, overreactions, and difficult behavior
    • Problems with the immune system
    • High levels of anxiety, depression, and mood-related illnesses
    • Difficulty focusing, learning, and Autism
    • Respiratory issues like asthma


    If you’ve had your child receive blood work recently, high levels of homocysteine in the blood could be another sign of MTHFR mutation. You can also assume the possibility of a mutation if one of the parents has one -- which can be reason enough to get your child tested. 

    How Do You Test for MTHFR In Children?

    If you’re preparing to have a baby, are already pregnant, or have children, we recommend getting your child tested as soon as possible. The procedure won’t hurt the baby and it could be vital to the child’s growth and development.


    The process will be no different from having a DNA cheek-swab or saliva test done and of course some labs use blood work to get the mutation status. A professional will take a blood sample and that will give them everything they need. Once it gets to the lab, they’ll work their magic and it’ll come back positive or negative. With the results they’ll be able to tell which variants the child has.


    Most of the tests being performed these days are simply out of curiosity. Since doctors will likely prescribe Methylfolate to someone with high homocysteine levels in the body, that will generally solve the MTHFR issue.

    My Child Has MTHFR, Now What?

    If your doctor diagnoses you with at least one variant of the MTHFR gene mutation, there’s a good chance they’ll direct you to take a Methylfolate supplement. This will be different from a Vitamin B9 supplement because it will deliver the active form of Folate (L-5-Methylfolate) which can actually work around the MTHFR mutation.


    Remember, the mutation is what’s causing the body to not produce enough Methylfolate -- by not properly making the conversion from Folate. Supplementing with Folate won’t solve this issue, especially in people with two variants. It’ll just give your body more Folate that it won’t convert and eventually excrete. And in some cases, if you’re supplementing with folic acid (or eating fortified foods that contain synthetic folic acid), you’re actually generating a bunch of extra “UFMA” or unmetabolized folic acid. And this has actually been linked to cancer by some research.


    Instead, Methylfolate bypasses this process and gives your body exactly what it needs. This will restore and maintain Methylfolate levels throughout the day, allowing methylation to work properly. 

    Methyl-Life® Is Here to Help

    Here at Methyl-Life™, we know all-too-well the underlying and overlying effects of MTHFR in children. Not only do we suffer from it ourselves, but we have become a leading voice in MTHFR education and awareness. We also provide a wide variety of supplements to help relieve these symptoms.


    If you’re just getting started with Methylfolate supplements, we have the perfect lineup for you. No nonsense, no extra ingredients, just the almighty Methylfolate in a capsule. With a fresh new look for 2020, our Methylfolate-only supplements come in four different dosages -- 2.5mg, 5mg, 10mg, and 15mg.


    In addition to our Methylfolate-only supplements, we provide various bundles to give you that extra boost every day.


    Our Beginner’s Bundle comes with the 2.5mg Methylfolate-only formula, a Hydroxocobalamin (active form of Vitamin B12) formula, a liposomal delivery Magnesium, and a non-methylated multivitamin formula. Four formulas, four bottles, one bundle.


    If you’re preparing for a baby, we also offer a pregnancy bundle that comes with a Methylated Multivitamin formula, a 2.5mg Methylfolate-only formula, and a Hydroxocobalamin-only formula. This bundle will have you and your baby in good shape throughout the pregnancy and beyond.


    We also offer a wide range of other supplements that target a variety of issues ranging from brain health to energy levels. You can view our full product lineup here, but we’ll also be available if you have any questions. We understand this is a new subject to most people and can be difficult to understand...


    Contact us today if you have any questions or are interested in any of our products. One of our highly-trained professionals will happily assist you!


    Read Next: Treating MTHFR Symptoms

    Product Recommendations

    Chewable Methylated Multivitamin - L-Methylfolate + Active B12 - MTHFR/Pregnancy/Children - Methyl-Life® Supplements

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    References

    1. Orsini, A, et al. “Methylenetetrahydrofolate Reductase Polymorphism (MTHFR C677T) and Headache in Children: a Retrospective Study from a Tertiary Level Outpatient Service.” Italian Journal of Pediatrics, BioMed Central, 2018 Aug

      www.ncbi.nlm.nih.gov/pmc/articles/PMC6119283/

    2. Checkup Newsroom. “Checkup Newsroom.” A Pediatrician Goes In-Depth Into MTHFR, Checkup Newsroom, 2020 Feb

      www.checkupnewsroom.com/a-pediatricians-goes-in-depth-into-mthfr/

    Katie Stone - Naturopath

    About the Author

    Katie is a qualified Naturopath (BNatMed) and freelance writer from New Zealand. She specializes in all things health and wellness, particularly dietary supplements and nutrition. Katie is also a dedicated runner and has completed more half-marathons than she can count!

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