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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
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. Symptoms are similar to those of Friedreich ataxia.

Signs and symptoms

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Cause

Familial isolated vitamin E deficiency is caused by mutations in the gene for a-tocopherol transfer protein. Symptoms manifest late childhood to early teens.

Diagnosis

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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.

See also

• Vitamin E deficiency
• TTPA

References

1. "Ataxia with vitamin E deficiency". www.orpha.net. Archived from the original on 2017-01-31. 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 J.H.; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301419.
5. 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.
6. ^ Schuelke, Markus (2016-10-13). "Ataxia with Vitamin E Deficiency". NCBI Bookshelf. PMID 20301419. Retrieved 2022-11-13.

External links

• Autosomal recessive disorders
• Rare diseases
• Neurological disorders
• Vitamin, coenzyme, and cofactor metabolism disorders