Ataxia with vitamin E deficiency associated with deafness

Kara B., Uezuemcue A., Uyguner O., Rosti R. O., Kocbas A., Oezmen M., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.50, no.5, pp.471-475, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 5
  • Publication Date: 2008
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.471-475
  • Istanbul University Affiliated: Yes

Abstract

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption. Vitamin E supplementation improves symptoms and prevents disease progress. In North Africa and Southern Europe, AVED is as common as Friedreich ataxia. There are no reported cases from Turkey. We herein report a 16-year-old Turkish girl with AVED, who was found to have total deletion of the TTPA gene as well as sensorineural deafness, and we present her follow-up data after vitamin E therapy.