Familial isolated vitamin e deficiency | |
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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.
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.[6]