FABRY disease

Fabry disease occurs due to mutations in the α-galactosidase A (GLA) gene present in the X-chromosome, which results in α-galactosidase A (α-GAL A) enzyme deficiency, leading to the intracellular accumulation of glycosphingolipids like globotriaosylceramide (Gb3). It involves multiorgan dysfunction, particularly affecting kidneys, heart, and central and peripheral nervous system.