title: Hearing loss in a family affected by Fabry disease.
abstract: Fabry disease is an inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha-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.
authors.affiliation: Clinic of Otorhinolaryngology, Catholic University of Scared Heart of Rome, Largo F Vito 1, 00168, Rome, Italy. bruno.sergi@rm.unicatt.it
authors.forename: Bruno
authors.initials: B
authors.lastname: Sergi
authors.forename: Guido
authors.initials: G
authors.lastname: Conti
mesh_terms: D000293:Adolescent; D000328:Adult; D018450:Disease Progression; D000795:Fabry Disease / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012016:Reference Values; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase