| 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. 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. 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
External links
- Ataxia with vitamin E deficiency at NIH's Office of Rare Diseases