P221: Systematic literature review of GLA variants uncovers additional Fabry Disease-causing variants

Fabry disease is a rare X-linked metabolic disorder resulting from deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) leading to accumulation of glycolipids and cellular dysfunction in numerous tissues. If left untreated, lethal cardiac disease, stroke, and renal failure may result. A complete understanding of disease-associated GLA variants can help with timely and accurate identification of affected individuals. Moreover, comprehensive cataloging and characterization of such variants can provide valuable context for a better mechanistic understanding of disease pathobiology.