Familial isolated vitamin E deficiency
Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease.[1][2][3][4] Symptoms are similar to those of Friedreich ataxia.
| Familial isolated vitamin e deficiency | |
|---|---|
| Other names | Ataxia With Vitamin E Deficiency |
 | |
| Familial isolated vitamin e deficiency has an autosomal recessive pattern of inheritance. | |
| Specialty | Neurology  |
Cause
Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[5]
Diagnosis
Treatment
gollark: I'll run that test later™, I have to test my new `beeoid` anagram regex.
gollark: I don't think it's an optimal regex, but it's generated from the FSM.
gollark: On the plus side, apparently `b(e(es|se)|se{2})|e(b(es|se)|e(bs|sb)|s(be|eb))|s(be{2}|e(be|eb))` matches all anagrams of `bees`.
gollark: I reduced it to just 651 states and ran it with pypy, yet it STILL runs slowly?!
gollark: Wow, converting my 1011-state finite state machine into a regex is slow.
See also
References
- "Ataxia with vitamin E deficiency". www.orpha.net. Retrieved 2017-01-19.
- 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.
- Reference, Genetics Home. "ataxia with vitamin E deficiency". Genetics Home Reference. Retrieved 2017-01-19.
- Schuelke, Markus (1993-01-01). "Ataxia with Vitamin e Deficiency". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301419.
- 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". Archives of Neurology. 59 (12): 1952–53. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185. Archived from the original (Free full text) on 2011-08-10.
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