Fumarase deficiency
From Wikipedia, the free encyclopedia
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.
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 communities were settled in the 1930s by a breakaway sect of the Mormon Church called the Fundamentalist Church of Jesus Christ of Latter Day Saints. The Fumarase Deficiency gene has become very common in the communities due to the practices of polygamy and inbreeding. It is believed that one of the founders of the communities, Joseph Smith Jessop, or his wife carried the gene and has now passed it on to his descendants.
