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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Fumaric aciduria
  • Fumarate hydratase deficiency
Home > Rare Diseases and Related Terms > Fumarase deficiency



Fumarase deficiency
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Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner.[1] No effective treatment is currently available.[2]


References
  1. Fumarase deficiency. Genetics Home Reference. April 2008 Available at: http://ghr.nlm.nih.gov/condition/fumarase-deficiency. Accessed January 20, 2012.
  2. Vivian E Shih and Roseann Mandell. Fumarate Hydratase Deficiency. GeneReviews. June 2, 2009 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1506/. Accessed November 6, 2012.
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Questions & Answers (Found 1 Question)
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 Fumarase deficiency click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 5 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 Fumarase deficiency. Click on the link to go to GHR and review the information.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fumarase 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 Fumarase deficiency. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



    • Epilepsy Foundation
      8301 Professional Place
      East Landover, MD 20785-2238
      Toll-free: 800-EFA-1000 (800-332-1000)
      Telephone: 301-459-3700
      Fax: 301-577-4941
      E-mail: info@efa.org    
      Web site: http://www.epilepsyfoundation.org/
    • Children Living with Inherited Metabolic Diseases (CLIMB)
      Climb Building
      176 Nantwich Road
      Crewe CW2 6BG
      United Kingdom
      Telephone: 0800 652 3181 (toll free)
      E-mail: info.svcs@climb.org.uk  
      Web site: www.climb.org.uk
  • Organizations Providing General Support

    • Genetic Alliance
      4301 Connecticut Avenue NW
      Suite 404
      Washington, DC 20008-2369
      Telephone: 202-966-5557
      Fax: 202-966-8553
      E-mail: info@geneticalliance.org
      Web site: http://www.geneticalliance.org
    • National Dissemination Center for Children with Disabilities
      1825 Connecticut Ave NW, Suite 700
      Washington, DC 20009
      Toll free: 1-800-695-0285
      Telephone: 201-884-8200
      TTY: 1-800-695-0285
      Fax: 202-884-8441
      E-mail: nichcy@fhi360.org
      Web site: http://www.nichcy.org
    • National Organization for Rare Disorders (NORD)
      55 Kenosia Avenue
      PO Box 1968
      Danbury, CT 06813-1968
      Toll-free: 1-800-999-6673 (voicemail only)
      Telephone: 203-744-0100
      TTY: 203-797-9590
      Fax: 203-798-2291
      E-mail: orphan@rarediseases.org
      Web site: http://www.rarediseases.org/
  • 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.
 Testing | Parent Resources
Services (Found 5 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

    • National Dissemination Center for Children with Disabilities
      1825 Connecticut Ave NW, Suite 700
      Washington, DC 20009
      Toll free: 1-800-695-0285
      Telephone: 201-884-8200
      TTY: 1-800-695-0285
      Fax: 202-884-8441
      E-mail: nichcy@fhi360.org
      Web site: http://www.nichcy.org
    • 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 2 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • 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.

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