Fabry Disease: A Comprehensive Review for Medical Practitioners
Introduction Fabry disease, also known as Anderson-Fabry disease, is a rare X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene, leading to deficient activity of the enzyme α-galactosidase A (α-Gal A). This results in the accumulation of globotriaosylceramide (GL-3; also called Gb3) in multiple organ systems, including the skin, eyes, kidneys, heart,…