Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis
Journal
Frontiers in Genetics
Date Issued
2024
Author(s)
Arsov, Todor
Jordanova, Vasilena
Marinova, Ivelina
Paskalev, Emil
DOI
10.3389/fgene.2024.1415906
Abstract
Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis.