Background: Fabry disease (FD) is an X-linked recessive disorder caused by mutations in the gene GLA, which lead to a deficiency in α-galactosidase A. This results in the accumulation of globotriaosylceramide (GL-3, Gb3) and globotriaosylsphingosine (lyso-GL-3) within lysosomes, affecting mainly cardiac cells, blood vessels, kidneys, nerves, causing their dysfunction (5). The gene discussed is GLA; the disease is Fabry disease.