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?
What does having two copies of the A1298C mutation mean for treatment and further testing recommendations?
Having two copies of A1298C is not associated with significant health risks. We recommend that you discuss this with your doctor to determine if further testing is recommended.
Last updated: 5/9/2017
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. 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).
It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate health 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. Speak to a healthcare professional if you have questions about your nutrition or need for vitamin supplementation.
Women of childbearing age should take the standard dose of folic acid supplementation to reduce the risk of neural tube defects. You can learn more about folic acid recommendations on the Centers for Disease Control and Prevention Web site: https://www.cdc.gov/ncbddd/folicacid/recommendations.html
Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
Last updated: 5/3/2017
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please