Familial isolated vitamin E deficiency

Familial isolated vitamin e deficiency
Classification and external resources
ICD-10 GroupMajor.minor
ICD-9-CM xxx
OMIM 277460 600415
DiseasesDB 30633

Familial Isolated Vitamin E Deficiency is a rare autosomal recessive[1] neurodegenerative disease. 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.[2]

Familial isolated vitamin e deficiency has an autosomal recessive pattern of inheritance.

See also

References

  1. 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 1801469Freely accessible. PMID 7726167.
  2. 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" (Free full text). Archives of neurology. 59 (12): 1952–53. doi:10.1001/archneur.59.12.1952. ISSN 0003-9942. PMID 12470185.


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