Among lysosomal storage diseases, Fabry disease (FD) is an X-linked disorder, caused by mutation of the GLA (MIM 301500) gene, with defect of the enzymatic activity of the α-galactosidase enzyme (α-GalA), leading to abnormal and excessive deposition of neutral glycosphingolipids, including globotriaosylceramide (Gb3) in endothelial, epithelial, and smooth muscle cells. The gene discussed is GLA; the disease is Fabry disease.