Tongue Tie and MTHFR Mutation

Tongue tie and the MTHFR mutation are the topic of many continuing education classes these days. Tongue tie (or ankyloglossia) is often associated with MTHFR genetic mutation. The condition of tongue tie is often accompanied by lip ties (labial ties), cheek ties (buccal ties), and sometimes with other midline defects. The genetic mutation of MTHFR is often responsible for midline defects like tongue tie.

The mutation of MTHFR is present as a recessive (carrier) gene in 30-50% of the population – this is called heterozygous mutation. There is a much smaller percentage of the population that are fully homozygous.

For most people with the genetic mutation, there are no side effects. However, it can cause an increase in homocysteine which contributes to heart problems. The mutation can also cause folic acid deficiency, which is important for neural tube development in the embryonic phase. Because patients who have or are carriers of the mutation are unable to process folic acid, they should manage their diets carefully. If patients with MTHFR need dental work, they should avoid using nitrous oxide at the dental office.