Familial isolated vitamin E deficiency
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| Familial isolated vitamin e deficiency | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | GroupMajor.minor |
| ICD-9-CM | xxx |
| OMIM | 277460 600415 |
| DiseasesDB | 30633 |
| Patient UK | Familial isolated vitamin E deficiency |
Familial Isolated Vitamin E Deficiency is a rare autosomal recessive[1] neurodegenerative disease. Symptoms are similar to those of Friedreich ataxia.
Contents
Cause
Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[2]
Familial isolated vitamin e deficiency has an autosomal recessive pattern of inheritance.
See also
External links
- Ataxia with vitamin E deficiency at NIH's Office of Rare Diseases
- aved at NIH/UW GeneTests
- OMIM entries on Ataxia with Vitamin E Deficiency
References
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