Familial isolated vitamin e deficiency
Other names	Ataxia With Vitamin E Deficiency
Familial isolated vitamin E deficiency has an autosomal recessive pattern of inheritance.
Specialty	Neurology
Treatment	high-dose oral vitamin E supplementation

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.

Cause

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]

Diagnosis

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.^[6]