Skip Navigation
Text Size: A  A  A
Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to MTHFR deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
Home > Genetic & Rare Diseases Information Center (GARD) > Homocysteinemia due to MTHFR deficiency



Homocysteinemia due to MTHFR deficiency
ORDR lists rare diseases for information purposes only and does not guarantee that a condition is rare. Read more
The links on this page may take you to sites outside of the NIH. (See Disclaimer for details.)
Homocysteinemia due to MTHFR deficiency is a metabolic condition characterized by neurological problems, such as developmental delay, seizures, and microcephaly. Signs and symptoms of vary from no symptoms to severe neurologic and blood vessel disease. It is inherited in an autosomal recessive fashion and is caused by mutations in the MTHFR gene . These mutations may cause a mild to severe loss of activity of the MTHFR enzyme and result in elevated levels of homocysteine in the blood (homocysteinemia) or urine (homocysteinuria). The most common MTHFR gene mutation is the C677T mutation. 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. [1][2]


References
  1. MTHFR. Genetics Home Reference. February 2011 Available at: http://ghr.nlm.nih.gov/gene/MTHFR. Accessed July 11, 2011.
  2. Homocystinuria due to deficiency of N(5,10)-Metylenetetrahydrofolate Reductase Activity. Online Medelian Inheritance of Man (OMIM). June 2007 Available at: http://www.omim.org/entry/236250. Accessed July 11, 2011.
click to take you to contact us form

Questions & Answers (Found 2 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Homocysteinemia due to MTHFR deficiency click on the boxes below:
More Detailed Information Organizations Medical Products Services Scientific Conferences Clinical Trials & Research
 General | Selected Full-Text Journal Articles
More Detailed Information (Found 7 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • Genetics Home Reference (GHR) contains information on Homocysteinemia due to MTHFR deficiency. Click on the link to go to GHR and review the information.
    • LabTests Online provides information on testing homocysteine levels in general. Click on LabTests Online to view the information page.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Homocysteinemia due to MTHFR deficiency. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Homocysteinemia due to MTHFR deficiency. Click on the link to view a sample search on this topic.
  • Selected Full-Text Journal Articles

 Organizations Providing General Support | Social Networking Websites
Organizations (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 
Medical Products (Found 1 resource)
Disclaimer
 Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • ClinicalTrials.gov lists trials that are studying or have studied Homocysteinemia due to MTHFR deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

Department of Health & Human Services National Institutes of Health USA.gov - government made easy