Recent advances in the diagnosis and treatment of Fabry disease
Zhou Zilong
Long Weiping
Abstract：Fabry disease(FD)is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body.The lysosomal accumulation of glycosphingolipids,especially globotriaosylceramide(Gb3)and globotriaosylsphingosine(lyso-Gb3,deacylated form),leads to a multisystemic disease with heart disease,progressive renal failure,and strokes,which considerably limits the life expectancy of affected patients.This article reviews the latest diagnosis and treatment of Fabry disease.The etiology,pathogenesis,clinical manifestations,and treatment of Fabry disease are reviewed below.
Keywords：Fabry diseasePathogenesisDiagnosisTreatment
Publication Date：2025-05-18
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 623-626 )