Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.
Signs and symptoms
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.
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.
See also Vitamin E deficiency TTPA
References
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