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.
Cause
Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[2]
See also
External links
References
- ^ Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F (1995 May). "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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1801469.
- ^ 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. http://archneur.ama-assn.org/cgi/pmidlookup?view=long&pmid=12470185.
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| B7 Biotin/MCD |
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| Other B |
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| Other vitamin |
Familial isolated vitamin E deficiency
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| Nonvitamin cofactor |
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noco, nuvi, sysi/epon, met
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