Familial isolated vitamin E deficiency

Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.

Cause

Familial isolated vitamin E deficiency is caused by mutations in the gene for a-tocopherol transfer protein. Symptoms manifest late childhood to early teens.

Treatment

Treatment includes Vitamin E therapy, where lifelong high-dose oral vitamin E supplementation is prescribed to maintain plasma vitamin E concentrations and monitoring vitamin E levels in blood plasma.