Submit Manuscript  

Article Details


Treatment of Anderson-Fabry Disease

Author(s):

Irene Simonetta*, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli and Antonio Pinto   Pages 1 - 10 ( 10 )

Abstract:


Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multiorgan manifestations ( acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry’s disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, viral gene therapy. This review outlines the current therapeutic approaches, emerging treatment strategies for Anderson-Fabry disease.

Keywords:

Fabry disease, Enzyme replacement therapy, Gene therapy, Viral vectors, Chaperone therapy

Affiliation:

Maternal and Infant Care, Internal Medicine and Medical "G. D'Alessandro", University of Palermo, Department of Health Promotion, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Department of Health Promotion, Piazza delle Cliniche n.2, 90127, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Department of Health Promotion,Piazza delle Cliniche n.2, 90127, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Department of Health Promotion, Piazza delle Cliniche n.2, 90127, Maternal and Infant Care, Internal Medicine and Medical Specialties, "G. D'Alessandro", University of Palermo, Department of Health Promotion, Piazza delle Cliniche n.2, 90127



Read Full-Text article