Ataxia with vitamin E deficiency associated with deafness.
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.
Kara
Bülent
B
Department of Pediatrics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Uzümcü
Abdullah
A
Uyguner
Oya
O
Rosti
Rasim Ozgür
RO
Koçbaş
Ayça
A
Ozmen
Meral
M
Kayserili
Hülya
H
D000293:Adolescent; D000595:Amino Acid Sequence; D001259:Ataxia / Q000097:blood / Q000150:complications* / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D003638:Deafness / Q000097:blood / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000097:blood / Q000150:complications* / Q000235:genetics
D002352:Carrier Proteins; D012333:RNA, Messenger; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E