Fabry disease is a rare, X-linked lysosomal storage disorder of glycosphingolipid catabolism resulting from a deficient activity of the lysosomal glycohydrolase α-galactosidase A (GLA).[1] The enzyme is encoded by the GLA gene in the X chromosomal region Xq22.[2] This enzymatic defect leads to progressive accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids throughout the body. The gene discussed is GLA; the disease is lysosomal storage disease.