Abstract
Purpose. – Fabry disease is an inborn error of metabolism due to a deficient activity of the lysosomal enzyme α-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues, mainly in the vascular endothelium. Strong point. – The aim of this paper is to present a review of the auditory manifestations in Fabry disease, and to discuss hypothesis on the vascular origin of deafness. Perspectives. – Sensorineural hearing loss in Fabry disease could be the first documented vascular pathology of the inner ear.
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