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. The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as an adult. ... This article is about the medical condition. ... Fumarase is an enzyme involved in the Krebs Cycle that catalyzes the hydration (addition of H2O across a double bond) of Fumarate to L-malate (the natural optical isomer of a protein as apposed to the d isomer) Fumarase Deficiency In humans, Fumarase Deficiency is an enzyme irregularity that causes... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... The citric acid cycle (also known as the tricarboxylic acid cycle, the TCA cycle, or the Krebs cycle) is a series of chemical reactions of central importance in all living cells that utilize oxygen as part of cellular respiration. ...

Prevalence in a polygamist sect

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] Colorado City is a town in Mohave County, Arizona, United States. ... Hildale is a city in Washington County, Utah, United States. ... The FLDS Temple near Eldorado, Texas The Fundamentalist Church of Jesus Christ of Latter Day Saints (FLDS) is a group of Mormon fundamentalists. ... The temple of The Church of Jesus Christ of Latter-day Saints located in Salt Lake City, Utah is the largest attraction in the citys Temple Square. ... Down syndrome or trisomy 21 (Downs Syndrome in British English[1]) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. ...

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, one of the founders of the communities, or his wife carried the gene and passed it on to their descendants. It has been suggested that inbreeding depression be merged into this article or section. ...

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

References

Sources

• U.S. polygamist community faces rare genetic disorder, June 14, 2007, Reuters
• Deseret Morning News article from February 9, 2006, about Fumarase Deficiency in Hildale, Utah, and Colorado City, Arizona.
• Phoenix New Times article from December 29, 2005, about Fumarase Deficiency in Hildale, Utah, and Colorado City, Arizona.
• http://www.neuro.wustl.edu/neuromuscular/mitosyn.html#fumaratehydratase