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
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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.[6]
^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. PMID20301419.
^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. ISSN0003-9942. PMID12470185.