Ataxia with vitamin E deficiency associated with deafness


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

TURKISH JOURNAL OF PEDIATRICS, cilt.50, ss.471-475, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 50 Konu: 5
  • Basım Tarihi: 2008
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.471-475

Özet

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.