MTHFR Gene Polymorphism: A Closer Look

Posted on January 22, 2019

As many of you may have been hearing about from your naturopathic physicians or reading about on social media or various blog posts, MTHFR gene polymorphism is a pretty hot topic, especially when it comes to using nitrous oxide or receiving sedation at the dental office. Dr. Ryan Allred, a board-certified dental anesthesiologist that I trust so much (he is a seriously brilliant and incredibly kind human) is as close to an expert on this topic that I have yet to discover and was gracious enough to share his very informational and educational presentation on MTHFR with me recently. Here I breakdown and summarize his main take-home points in an attempt to clear the air about MTHFR and hopefully ease some parents minds about this condition.

  • MTHFR (Methylenetetrahydrofolate reductase) is the rate limiting enzyme in the methyl cycle. MTHFR catalyzes the production of the active form of Methylfolate which is used for DNA production and homocysteine regulation.
  • Genetic alterations in the MTHFR gene are relatively common. These are called SNPs (single nucleotide polymorphisms).  Individuals with MTHFR SNPs have a decreased ability to regulate homocysteine levels.
  • Patients with MTHFR SNPs are likely at a higher risk for various problems: Increased risk of vascular inflammation (increased cardiac risk), Neural tube defects , Neurological deficits (mylenation defects), and Autism.
  • KEY POINTS! 1) Severe MTHFR SNPs are rare 2) Risk Factors are children under 1yo, severe vitamin B deficiency, and severe MTHFR SNP  3) AAPD (American Academy of Pediatric Dentistry) states that Nitrous Oxide is contraindicated for those with a severe MTHFR SNP         4) Signs and symptoms for severe MTHFR SNPs are hypotonicity, motor dysfunction, mental delay
  • Patients can be heterozygous or homozygous. Homozygous mutations are usually considered more severe.  Be leery of self-diagnosing from tests like 23 and Me or from markers only.  These can certainly highlight potential issues, but if you have true concerns, please see your doctor where proper testing can be completed to differentiate between severe or mild mutations (or any at all!).
  • Mild variations of MTHFR are fairly common in America.
  • Severe MTHFR mutations are rare and lead to a serious medical condition called hyperhomocysteinemia. There are currently only around 50 patients worldwide diagnosed with severe MTHFR mutations.  Signs and symptoms of severe MTHFR include:  developmental delay, motor and gait dysfunctions, seizures, and neurological impairments.
  • Recommendations if your child would truly benefit from Nitrous Oxide or General Anesthesia Sedation at the dentist and has diagnosed mild MTHFR…
    • B12 supplementation before and after procedure
    • Increase green leafy vegetables (methylfolate) before and after procedure (Green Smoothies!)
    • Avoid Nitrous Oxide use in any patient with a known Vitamin B12 deficiency or who is known to have a severe MTHFR SNPs-particularly a homozygous SNP
  • Conclusion: MTHFR polymorphisms are common, but it is controversial as to how important mild SNPs are to a patients overall health.  Nutritional intake of folate and vitamin B12 is important to help improve MTHFR activity in the event your child need Nitrous Oxide or other forms of anesthesia sedations.
  • Remember…major problems from MTHFR SNPs are really rare and Nitrous Oxide use remains a safe modality for patients with no mutations or only mild mutations.

If concerned with your child metabolizing (methylation) of medications and to speed up any residual neurological effects of anesthesia, it is recommended to supplement with B12, leafy green vegetables, and Methylfolate a few days prior to your appointment and a few days after.  Epson salt baths (magnesium sulfate) can help expedite the processes as well.

If you still have concerns, we are always here to listen and to help to offer more information and potential alternatives.  Getting your child properly tested is the best place to start, however.  Going off markers alone is not generally conclusive in differentiating the degree of mutation your child may (or may not) have.

Call us today at NoPo Kids Dentistry to schedule a consultation and to discuss your options or talk more to your doctor about your concerns.  We always want parents to feel informed in their decisions and encourage you to reach out to all sources possible to gain as much information about this topic as possible.  Visit to book an appointment of to see more of our office’s offerings.

Love and Health,

Doctor Staci and the NoPo Kids Team xo

The information provided on this site is not intended as medical or dental advice and should not be interpreted as such. The intent is to provide as much scientific information as possible on different dental materials and aspects of dentistry where controversy exists and scientific clarification would be of benefit to patients, staff, dentists, physicians and scientists in making informed judgments. If you seek medical or dental advice, please consult with a health care professional. You must always exercise your own best judgement when using the services of any health care practitioner.

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