Familial isolated vitamin E deficiency
| Familial isolated vitamin e deficiency | |
|---|---|
| Classification and external resources | |
| ICD-10 | GroupMajor.minor |
| ICD-9-CM | xxx |
| OMIM | 277460 600415 |
| DiseasesDB | 30633 |
Familial Isolated Vitamin E Deficiency is a rare autosomal recessive[1] 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.[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
- ↑ Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F (May 1995). "Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families" (Free full text). American Journal of Human Genetics. 56 (5): 1116–24. ISSN 0002-9297. PMC 1801469
. PMID 7726167. - ↑ Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S (Dec 2002). "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia" (Free full text). Archives of neurology. 59 (12): 1952–53. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185.
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