Sarah Lerario, Luigi Monti, Irene Ambrosetti, Agnese Luglio, Andrea Pietra, Valeria Aiello, Francesca Montanari, Antonio Bellasi, Gianluigi Zaza, Antonio Galante, Davide Salera, Irene Capelli, Gaetano La Manna, Michele Provenzano
Fabry Disease (FD) is a genetic disease caused by a deficiency in the activity of lysosomal galactosidase A (α-GalA), an enzyme responsible for the catabolism of globotriaosylceramide (Gb3). Since lysosomes are present throughout the body and play a crucial role in catabolism and recycling of cytosolic compounds, FD can affect multiple organs and result in various symptoms, including renal, cardiovascular, neurological, cutaneous, and ophthalmic manifestations. Due to the nonspecific symptoms and the rarity of FD, it is often diagnosed late in life...
April 13, 2024: International Urology and Nephrology