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 namesAtaxia With Vitamin E Deficiency
Familial isolated vitamin e deficiency has an autosomal recessive pattern of inheritance.
SpecialtyNeurology 

Cause

Familial Isolated Vitamin E Deficiency is caused by mutations in the gene for a-tocopherol transfer protein.[5]

Diagnosis

Treatment

See also

References
  1. "Ataxia with vitamin E deficiency". www.orpha.net. Retrieved 2017-01-19.
  2. 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.
  3. Reference, Genetics Home. "ataxia with vitamin E deficiency". Genetics Home Reference. Retrieved 2017-01-19.
  4. 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.
  5. Template:Fitness Hacker
Classification


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.