2. Biology Dictionary
  3. Ataxia with isolated vitamin E deficiency (AVED)

Ataxia with isolated vitamin E deficiency (AVED)

Definition:

Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E.

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