Medicine:Familial isolated vitamin E deficiency
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| Familial isolated vitamin e deficiency | |
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| Other names | Ataxia With Vitamin E Deficiency |
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| Familial isolated vitamin E deficiency has an autosomal recessive pattern of inheritance. | |
| 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]
Diagnosis
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
- Vitamin E deficiency
- TTPA
References
- ↑ "Ataxia with vitamin E deficiency" (in en). http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=96.
- ↑ "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. May 1995. ISSN 0002-9297. PMID 7726167.
- ↑ Reference, Genetics Home. "ataxia with vitamin E deficiency" (in en). https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency.
- ↑ Schuelke, Markus (1993-01-01). "Ataxia with Vitamin e Deficiency". in Pagon, Roberta A.. GeneReviews. Seattle (WA): University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1241/.
- ↑ "A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia". Archives of Neurology 59 (12): 1952–53. Dec 2002. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185.
- ↑ 6.0 6.1 Schuelke, Markus (2016-10-13). Ataxia with Vitamin E Deficiency. PMID 20301419. https://www.ncbi.nlm.nih.gov/books/NBK1241/. Retrieved 2022-11-13.
External links
- Ataxia with vitamin E deficiency at NIH's Office of Rare Diseases
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