MTHFR gene mutation
* Not a rare disease
Other Names for this Disease
- Methylenetetrahydrofolate reductase mutation
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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. It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate this risk. 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.
Last updated: 8/13/2015
- Rosenson RS, Kang DS. Overview of homocysteine. In: Fletcher RH, Freeman MW. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 3/27/2015.
- Folate. Linus Pauling Institute Micronutrient Information Center. Last Updated 2014; http://lpi.oregonstate.edu/mic/vitamins/folate#disease-treatment. Accessed 8/13/2015.
- 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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- ClinicalTrials.gov lists trials that are studying or have studied MTHFR gene mutation. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.