Familial isolated vitamin e deficiency | |
---|---|
Other names | Ataxia With Vitamin E Deficiency |
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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]
![]() | This section is empty. You can help by
adding to it. (July 2017) |
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]
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.
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]
![]() | This section is empty. You can help by
adding to it. (July 2017) |
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]