Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations

Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations

Fabry Disease (FD) is a rare lysosomal storage disorder caused by mutations in the <i>GLA</i> gene on the X chromosome, leading to a deficiency in α-galactosidase A (AGAL) enzyme activity. This leads to the accumulation of glycosphingolipids, primarily globotriaosylceramide (Gb3), in vit...

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Bibliographic Details
Main Authors: Raafiah Izhar, Margherita Borriello, Antonella La Russa, Rossella Di Paola, Ananya De, Giovambattista Capasso, Diego Ingrosso, Alessandra F. Perna, Mariadelina Simeoni
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
Fabry disease
<i>GLA</i> gene
genetic basis
X-chromosome inactivation
clinical manifestations
therapies
Online Access:https://www.mdpi.com/2073-4425/15/1/37

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