Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation.

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

Prota, Costantina
Membro del Collaboration Group
;
Ferraioli, Donatella
Membro del Collaboration Group
;
Pucci, Martina
Membro del Collaboration Group
;
Radano, Ilaria
Membro del Collaboration Group
;
Galasso, Gennaro
Writing – Review & Editing
;
Vecchione, Carmine
Supervision
;
Citro, Rodolfo
Conceptualization
2021-01-01

Abstract

Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11386/4809956
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