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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 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 folic acid or B vitamins. It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts folic acid, choline, and B vitamins (B12, B6, and riboflavin) to mitigate this risk. If adequate nutrition cannot be attained through diet alone, supplementation is considered.[2]
Last updated: 4/15/2015

References
  • Lab Tests Online. MTHFR. September 6, 2011; http://labtestsonline.org/understanding/analytes/mthfr/tab/test. Accessed 1/22/2014.
  • Rosenson RS, Kang DS. Overview of homocysteine. In: Fletcher RH, Freeman MW. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 3/27/2015.
  • Varga EA, Sturm AC, Misita CP, Moll S. Homocysteine and MTHFR Mutations: Relation to Thrombosis and Coronary Artery Disease. Circulation. 2005; 111:e289-e293. http://circ.ahajournals.org/content/111/19/e289.full. Accessed 9/18/2012.
  • Liew SC, Gupta ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet. 2015 Jan; 58(1):1-10. Accessed 3/27/2015.
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.