Article
Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene.
Metabolic brain disease - 1 Dec 2022
Cianci Vittoria, Pascarella Angelo, Gasparini Sara, Donadio Vincenzo, Liguori Rocco, Incensi Alex, Rao Carmelo Massimiliano, Franzutti Claudio, Scappatura Giuseppe, Aguglia Umberto, Ferlazzo Edoardo
Abstract excerpt
Fabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency of alpha-galactosidase A. The inadequate enzymatic activity leads to progressive glycosphingolipids accumulation within tissues and subsequent multi-systemic dysfunction, with predominant involvement of heart, kidney, and nervous system. Two subtypes are recognized:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.