Hearing loss in a family affected by Fabry disease

Summary Fabry disease is an inborn error of metabolism due to deficient activity of the lysosomal enzyme α-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues. Otological manifestations consist of hearing loss and mild vestibular disorders. In this report we describe a family of five members affected by Fabry disease with four subjects showing inner ear involvement. Competing interests: None declared