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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 ...
- Metabolic Disorders (National Library of Medicine)Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
