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Diseases

Genetic and Rare Diseases Information Center (GARD)

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MTHFR gene mutation

*

* Not a rare disease

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 an MTHFR gene mutation be treated?

No treatment is recommended for people with MTHFR gene mutations who do not have elevated blood levels of homocysteine. Treatment for elevated homocysteine levels is the same whether the elevation is caused by MTHFR gene mutations or some other factor (i.e. vitamin deficiencies). It is recommended that people increase their intake of folic acid, vitamin B6, and vitamin B12 by adjusting their diet or taking supplements. Although vitamin therapy is often successful in lowering homocysteine levels, it is unclear whether this reduction actually decreases the risk for the various health problems that may be associated with MTHFR gene mutations.[2]  

Women considering pregnancy should discuss their MTHFR gene mutation status with their healthcare provider. Some physicians may recommend a higher dose of folic acid supplementation than what is generally recommended during pregnancy due to a possible link between MTHFR gene mutations and neural tube defects.[2]  
Last updated: 12/11/2014

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.