Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene that lead to deficiency of the a-galactosidase A (AGAL-A) enzyme, which in turn leads to accumulation of globotriaosylceramide (GL-3) and globotriaosylphingosine (Lyso-GL3) in the lysosomes. The gene discussed is GLA; the disease is Fabry disease.