A . Palla S . Hegemann U . Widmer D . Straumann Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy
نویسنده
چکیده
In Fabry disease, an X-linked lysosomal storage disorder, deficient activity of the enzyme α-galactosidase A (α-Gal A) [6, 22] leads to intracellular accumulation of globotriaosylceramide predominantly in the vascular tissue, eye, skin, kidney, heart, and nervous system [7, 10]. Disease prevalence is estimated between 1:40,000 and 1:117,000 live births [27]. If later-onset variant phenotypes are included, incidence ranges from 1:3100 to 1:4600 [39]. The clinical onset in childhood is characterized by painful acroparaesthesias, hypohydrosis, typical angiokeratoma, gastrointestinal symptoms, such as abJO N 2575 Received: 31 December 2006 Accepted: 24 January 2007 Published online: 15 October 2007
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