Familial isolated vitamin E deficiency explained

Familial isolated vitamin e deficiency
Synonyms:Ataxia With Vitamin E Deficiency
Treatment:high-dose oral vitamin E supplementation

Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease.[1] [2] [3] [4] 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.[5] Symptoms manifest late childhood to early teens.[6]

Treatment

Treatment includes Vitamin E therapy, where lifelong high-dose oral vitamin E supplementation is prescribed to maintain plasma vitamin E concentrations and monitoring vitamin E levels in blood plasma.[6]

See also

Notes and References

  1. Web site: Ataxia with vitamin E deficiency. www.orpha.net. en. 2017-01-19. 2017-01-31. https://web.archive.org/web/20170131191556/http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=96. dead.
  2. 7726167 . Doerflinger N, Linder C, Ouahchi K, Gyapay G, Weissenbach J, Le Paslier D, Rigault P, Belal S, Ben Hamida C, Hentati F . Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families . 56 . 5 . 1116–24 . 0002-9297 . 1801469 . American Journal of Human Genetics . Free full text . May 1995.
  3. Web site: ataxia with vitamin E deficiency. Reference. Genetics Home. Genetics Home Reference. en. 2017-01-19.
  4. Book: Schuelke, Markus. https://www.ncbi.nlm.nih.gov/books/NBK1241/. GeneReviews. 1993-01-01. University of Washington, Seattle. Pagon. Roberta A.. Seattle (WA). 20301419. Adam. Margaret P.. Ardinger. Holly H.. Wallace. Stephanie E.. Amemiya. Anne. Bean. Lora J.H.. Bird. Thomas D.. Ledbetter. Nikki. Mefford. Heather C.. Ataxia with Vitamin e Deficiency.
  5. 12470185 . Dec 2002 . Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S . A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia . 59 . 12 . 1952–53 . 0003-9942 . Archives of Neurology . 10.1001/archneur.59.12.1952 .
  6. Schuelke . Markus . Ataxia with Vitamin E Deficiency . NCBI Bookshelf . 2016-10-13 . 20301419 . 2022-11-13.

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