Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease.

[1][2][3][4] Symptoms are similar to those of Friedreich ataxia.

Familial isolated vitamin E deficiency is caused by mutations in the gene for a-tocopherol transfer protein.

[5] Symptoms manifest late childhood to early teens.

[6] 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.