Fumarase deficiency

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Fumarase deficiency
Fumarate wpmp.png
Fumarate is broken down by fumarase
OMIM 606812
DiseasesDB 29835

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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

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