Fumarase deficiency

Jump to navigation Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.
Fumarase deficiency
Fumarate is broken down by fumarase
OMIM 606812
DiseasesDB 29835

WikiDoc Resources for Fumarase deficiency

Articles

Most recent articles on Fumarase deficiency

Most cited articles on Fumarase deficiency

Review articles on Fumarase deficiency

Articles on Fumarase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Fumarase deficiency

Images of Fumarase deficiency

Photos of Fumarase deficiency

Podcasts & MP3s on Fumarase deficiency

Videos on Fumarase deficiency

Evidence Based Medicine

Cochrane Collaboration on Fumarase deficiency

Bandolier on Fumarase deficiency

TRIP on Fumarase deficiency

Clinical Trials

Ongoing Trials on Fumarase deficiency at Clinical Trials.gov

Trial results on Fumarase deficiency

Clinical Trials on Fumarase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Fumarase deficiency

NICE Guidance on Fumarase deficiency

NHS PRODIGY Guidance

FDA on Fumarase deficiency

CDC on Fumarase deficiency

Books

Books on Fumarase deficiency

News

Fumarase deficiency in the news

Be alerted to news on Fumarase deficiency

News trends on Fumarase deficiency

Commentary

Blogs on Fumarase deficiency

Definitions

Definitions of Fumarase deficiency

Patient Resources / Community

Patient resources on Fumarase deficiency

Discussion groups on Fumarase deficiency

Patient Handouts on Fumarase deficiency

Directions to Hospitals Treating Fumarase deficiency

Risk calculators and risk factors for Fumarase deficiency

Healthcare Provider Resources

Symptoms of Fumarase deficiency

Causes & Risk Factors for Fumarase deficiency

Diagnostic studies for Fumarase deficiency

Treatment of Fumarase deficiency

Continuing Medical Education (CME)

CME Programs on Fumarase deficiency

International

Fumarase deficiency en Espanol

Fumarase deficiency en Francais

Business

Fumarase deficiency in the Marketplace

Patents on Fumarase deficiency

Experimental / Informatics

List of terms related to Fumarase deficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Overview

Fumarase deficiency is an enzyme irregularity that causes severe mental retardation, unusual facial features, brain malformation, and epileptic seizures due to an abnormally low amount of fumarase in cells. The condition is congenital and is the result of receiving two defective recessive genes on the first chromosome that influence the functioning of the Krebs Cycle.

Epidemiology

Fumarase deficiency is extremely rare. Until a few years ago scientists knew of only thirteen cases worldwide. However, recently twenty additional cases have been documented in the border towns of Colorado City, Arizona, and Hildale, Utah. These two towns constitute a closed and controlled community, and were settled in the 1930s by the Fundamentalist Church of Jesus Christ of Latter Day Saints, which is a breakaway sect of The Church of Jesus Christ of Latter-day Saints. As such, many of the surrounding communities refer to this disease as "Polygamist's Down's"[1]

The fumarase deficiency gene has become very common in this community, due to the practice of inbreeding. It is believed that either Joseph Smith Jessop or one of the founders of the communities, or his wife carried the gene and passed it on to their descendants.

The populations of Colorado City and Hildale are examples of the founder effect.

Dignosis

Signs and symptoms

Laboratory findings

  • Ammonia levels raised (blood)
  • Organic aciduria
  • Neutropenia
  • Polycythaemia

Associated abnormalities

References

Sources

it:Aciduria fumarica

Template:WH Template:WS