Fabry disease is an inherited metabolic disease that is caused by an abnormal accumulation of sphingolipids, including globotriaosylceramide (Gb-3), in lysosomes. Patients with Fabry disease have reduced or absence of an enzyme called α-galactosidase, which catabolizes…
Source: https://karger.com/nef/article/doi/10.1159/000546085/929634/Recent-Advances-in-Understanding-the