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Diseases

Genetic and Rare Diseases Information Center (GARD)

MTHFR gene mutation

*

* Not a rare disease
Información en español

Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I just found out I also have a MTHFR homozygous A1298C mutation. (the C677T mutation was NOT detected.) What does the combination of these two mutations mean for treatment and further testing recommendations?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What does having two copies of the A1298C mutation mean for treatment and further testing recommendations?

Two copies of A1298C are not typically associated with increased homocysteine levels. A mutation in the A1298C gene usually only causes health problems if a person's other gene copy has a mutation in the C677T gene.[1] We recommend that you discuss this with your doctor to determine if further testing is recommended.
Last updated: 12/11/2014

How might a MTHFR gene mutation be treated?

High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin).[2][3]

It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered.[4][2] We recommend that you talk to your doctor to learn if supplementation would benefit you.

Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
Last updated: 2/8/2016

References
Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.