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 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 vital organs such as the kidneys, heart, and nervous system. While FD was initially considered predominantly affecting males, recent studies have uncovered that heterozygous Fabry women, carrying a single mutated gene, can manifest a wide array of clinical symptoms, challenging the notion of asymptomatic carriers.