Fumarase deficiency

What causes fumarase deficiency?

Fumarase deficiency is caused by mutations in the FH gene. This gene gives the body instructions for making an enzyme called fumarase, which helps cells use oxygen and make energy. Mutations in the gene interfere with the enzyme's function. Making energy is particularly important to cells during brain development, so when the enzyme does not work properly, the brain does not develop properly, leading to many of the signs and symptoms of fumarase deficiency.

Last updated on 05-01-20

How can I find individuals or families affected by fumarase deficiency?

You may be able to connect with individuals and/or families affected by fumarase deficiency through Climb, the National Information Centre for Metabolic Diseases. This organization works on behalf of children, young people, adults and families affected by metabolic disease. They have a Climb Family Contacts Network, which aims to help reduce the sense of isolation felt by many families affected by a rare disease, giving families the opportunity to share experiences, information and advice.

Last updated on 05-01-20

What is fumarase deficiency?

Fumarase deficiency is an inherited condition that affects the brain and other parts of the nervous system. Signs and symptoms may include a small head (microcephaly), severe developmental delay, poor feeding, weak muscle tone (hypotonia), failure to thrive, seizures, and distinctive facial features. Most people with this deficiency are not able to speak or walk. A variety of brain abnormalities may be detected on MRI. Fumarase deficiency is caused by mutations in the FH gene and inheritance is autosomal recessive. Unfortunately, there is no effective treatment at this time. Management aims to improve symptoms and increase quality of life. Many children with fumarase deficiency do not survive past early childhood, but some are less severely affected, have mild cognitive impairment, and survive beyond this time.

Last updated on 05-01-20

How many people have fumarase deficiency?

Fumarase deficiency is a rare disease, with around 100 reported cases worldwide as of 2017. The disease occurs in people of different ethnic backgrounds, but several people with fumarase deficiency were from an isolated religious community in the southwestern United States (around the border of northern Arizona and southern Utah). The increased frequency in this area is thought to be due to a founder effect in closed, polygamist communities in which marriage between relatives is more common.

Last updated on 05-01-20

How might fumarase deficiency be treated?

Currently there is no effective treatment for fumarase deficiency. The goal of management is to improve symptoms, prevent complications, and increase quality of life. Examples of management options include:

  • Standard anticonvulsant medications for seizures.
  • Placement of a feeding tube (if needed) for optimal nutrition and to prevent aspiration.
  • Special needs services for support with motor, language, and social development.

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: Epilepsy Foundation 8301 Professional Place East Suite 230
Landover, MD, 20785, United States
Phone: +1-301-459-3700 Toll Free: 800-332-1000 (24/7 Helpline) Fax : +1-301-577-2684 Email: contactus@efa.org Url: https://www.epilepsy.com/ en Español 1-866-748-8008

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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