Results 1 -
3
of
3
for
Fumarase deficiency
Did you mean fumarate deficiency?
- Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have ... but a few have lived into early adulthood. Fumarase deficiency is a very rare disorder. Approximately 100 affected ...
- ... gene mutations have been identified in people with fumarase deficiency, a condition that primarily affects the brain and is often fatal in infancy. Fumarase deficiency occurs in individuals who inherit two mutated copies ...
- ... in each cell have a different condition called fumarase deficiency, which is often fatal in infancy. These individuals ... to a child and are potential carriers of fumarase deficiency, but they do not have signs or symptoms ...
