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Hearing loss in a family affected by Fabry disease.
J Inherit Metab Dis
June 2007
Clinic of Otorhinolaryngology, Catholic University of Scared Heart of Rome, Largo F Vito 1, 00168, Rome, Italy.
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.
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