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Genetic and Rare Diseases Information Center (GARD)

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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
More Names
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 have MTHFR deficiency and I have four children; I am interested in having them genetically tested for the condition. I would also be interested in taking part in a study if there is anyone conducting research on this condition. Additionally, I am always looking for updated research from medical journals. Where can I go for the most current and reliable research articles on MTHFR?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is genetic testing available for homocysteinemia due to MTHFR deficiency?

Genetic testing for homocysteinemia due to MTHFR deficiency is available. It should be noted that health problems tend not to be related to whether someone has a MTHFR gene mutation or even a MTHFR enzyme deficiency, but whether the deficiency is leading to elevated levels of homocysteine in the blood (homocysteinemia) or urine. GeneTests lists the names of laboratories that are performing clinical genetic testing for MTHFR deficiency. To view the contact information for the clinical laboratories conducting testing click here.

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.
Last updated: 1/11/2011

How can I find a genetics professional in my area?

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:
Last updated: 10/18/2013

Where can I find out about participating in clinical trials or current research being conducted with individuals who have homocysteinemia due to MTHFR deficiency?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. This Web site lists clinical trials that are either currently enrolling individuals with MTHFR deficiency, active but not recruiting individuals with the condition, or completed. To find these trials, click on the link above and use "homocysteinemia due to MTHFR" as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH)to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Telephone:1- 800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site: http://clinicalcenter.nih.gov/

If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page:  http://clinicaltrials.gov/ct2/info/understand 

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health: http://rarediseases.info.nih.gov/Resources.aspx?PageID=8
Last updated: 7/20/2011

Where can I find the most current and reliable articles on homocysteinemia due to MTHFR deficiency?

You can find relevant articles on homocysteinemia due to MTHFR deficiency through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. To see a list of relevant articles about MTHFR deficiency, click here. Use the advanced search feature to narrow your search results.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 1/11/2011