Familial isolated vitamin E deficiency

Familial isolated vitamin E deficiency
ICD-10	GroupMajor.minor
ICD-9	xxx
OMIM	277460 600415
DiseasesDB	30633

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Overview

Familial Isolated 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.

Familial isolated vitamin E deficiency has an autosomal recessive pattern of inheritance.

External Links

• Template:RareDiseases
• aved at NIH/UW GeneTests