Fabry Disease

Fabry disease is a rare genetic disorder caused by a deficiency in the enzyme alpha-galactosidase A (alpha-GAL), which is responsible for breaking down sphingolipids, fat-like substances. Without enough functional alpha-GAL, sphingolipids accumulate in blood vessels and tissues, leading to damage. The condition affects multiple organs, including the heart, kidneys, brain, central nervous system, and skin. Fabry disease is classified as a lysosomal storage disorder.