ICD-10 GroupMajor.minor OMIM 277460 600415 | ICD-9-CM xxx DiseasesDB 30633 | |
 | ||
Familial Isolated Vitamin E Deficiency also known as Ataxia With Vitamin E Deficiency 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.
References
Familial isolated vitamin E deficiency Wikipedia(Text) CC BY-SA