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, CostantinaMembro del Collaboration Group
;Ferraioli, DonatellaMembro del Collaboration Group
;Pucci, MartinaMembro del Collaboration Group
;Radano, IlariaMembro del Collaboration Group
;Galasso, GennaroWriting – Review & Editing
;Vecchione, CarmineSupervision
;Citro, RodolfoConceptualization
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.File in questo prodotto:
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