Homocysteinemia due to MTHFR deficiency
Other Names for this Disease
- 5,10 alpha methylenetetrahydro-folate reductase deficiency
- 5,10-alpha-methylenetetrahydro-folate reductase deficiency
- Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
- Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
- Homocysteinuria due to MTHFR deficiency
Your QuestionI have MTHFR deficiency. Can you tell me more about this in lay language?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is homocysteinemia due to MTHFR deficiency?
- What are the signs and symptoms of homocysteinemia due to MTHFR deficiency?
- What causes homocysteinemia due to MTHFR deficiency?
- How is homocysteinemia due to MTHFR deficiency inherited?
- Is genetic testing available for homocysteinemia due to MTHFR deficiency?
- How might homocysteinemia due to MTHFR deficiency be treated?
- How can I find a genetics professional in my area?
High homocysteine levels in the blood may also increase the risk of preeclampsia, miscarriage, and blood clots. In general, mild to moderate homocysteinemia has been associated with an increase risk developing blood clots in the veins often in the lower leg or calf, which can travel to the lung (i.e., pulmonary embolism). 
There are many different gene mutations that can occur in the MTHFR gene that can result in a MTHFR enzyme that is not working as it should. The most common MTHFR gene mutation is the C677T mutation.
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- MTHFR. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/11/2011.
- Homocystinuria due to deficiency of N(5,10)-Metylenetetrahydrofolate Reductase Activity. Online Medelian Inheritance of Man (OMIM). June 2007; http://www.omim.org/entry/236250. Accessed 7/11/2011.
- Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.
- MTHFR. Genetics Home Reference (GHR). Februrary 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/14/2011.
- Homocysteine. American Academy of Family Physicians. 2006; http://familydoctor.org/online/famdocen/home/articles/249.html. Accessed 5/13/2009.
- Goodnight SH and Griffin JH. Hereditary Thrombophilia. In: Ernest Beutler, Marshall A. Lichtman, Barry S. Coller, Thomas J. Kipps, and Uri Seligsohn. Williams Hematology, 6th ed. Philadelphia, PA: McGraw-Hill ; 2001;