| Literature DB >> 16413636 |
D Malinvaud1, P Avan, D P Germain, K Benistan, P Bonfils.
Abstract
PURPOSE: Fabry disease is an inborn error of metabolism due to a deficient activity of the lysosomal enzyme alpha-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.Entities:
Mesh：
Year: 2006 PMID： 16413636 DOI： 10.1016/j.revmed.2005.12.006
Source DB: PubMed Journal: Rev Med Interne ISSN： 0248-8663 Impact factor: 0.728