fabry disease

Sep 04, 2023

Fabry disease is a rare hereditary lysosomal storage disorder that is caused by mutation in the GLA gene located on the X chromosome. The defect leads to the deficiency of an enzyme called alpha-galactosidase A, responsible for the breakdown of globotriaosylceramide (Gb3). The accumulation of the fatty substance le...

Mar 28, 2022

Fabry Disease is an inherited lysosomal storage disease caused by a nonfunctional or partially functional enzyme called alpha galactosidase A (α-Gal A). Decreased activity of α-Gal A in lysosomes results in the accumulation of enzyme substrates (Gb3 and lyso-Gb3) which cause cellular damage in tissues throughout th...

Aug 17, 2018

Alnylam’s Onpattro Receives First-Ever US FDA Approval for Treatment of the Polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis in Adults US FDA approved Alnylam’s Onpattro (patisiran) lipid complex injection, a first-of-its-kind RNA interference (RNAi) therapeutic, for the treatment of the polyneurop...