Homocystinuria due to MTHFR deficiency
- Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
- Methylenetetrahydro-folate reductase deficiency
- Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
- 5,10-alpha-methylenetetrahydro-folate reductase deficiency
- 5,10 alpha methylenetetrahydro-folate reductase 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 homocystinuria due to MTHFR deficiency?
- How is homocystinuria due to MTHFR deficiency inherited?
- Is genetic testing available for homocystinuria due to MTHFR deficiency?
- How can I find a genetics professional in my area?
For more information on common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene mutation
For information on signs and symptoms reported in association with common MTHFR gene mutations, such as C677T, please visit our MTHFR Gene Mutation resource page.
For more information on the inheritance of common MTHFR gene mutations (such as C677T) visit our page: MTHFR gene 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.
- Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.
- Munoz T, Patel J, Badilla-Porras R, Kronick J, Mercimek-Mahmutoglu S. Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency. Brain Dev. 2015 Jan; 37(1):168-70. Accessed 9/10/2015.
- MTHFR. Genetics Home Reference (GHR). Februrary 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/14/2011.
- 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.
- Homocysteine. American Academy of Family Physicians. 2006; http://familydoctor.org/online/famdocen/home/articles/249.html. Accessed 5/13/2009.
- Homocystinuria due to deficiency of N(5,10)-Methylenetetrahydrofoloate reductase activity. Online Mendelian Inheritance in Man. 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236250. Accessed 5/13/2009.
- Rosenson RS, Kang DS. Overview of homocysteine. In: Fletcher RH, Freeman MW. UpToDate. Waltham, MA: UpToDate; 2015; Accessed 3/27/2015.
- 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.
- Physician's Guide to The Homocystinurias. The National Organization of Rare Disorders. http://nordphysicianguides.org/wp-content/uploads/2012/02/Homocystinuria_11_29b.pdf. Accessed 9/10/2015.