Irene Simonetta*, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli and Antonio Pinto Pages 5089 - 5099 ( 11 )
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 multi-organ 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 high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of 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 such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy.
This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.
Fabry disease, enzyme replacement therapy, gene therapy, viral vectors, chaperone therapy, pharmacological.
U.O.C di Medicina Interna con Stroke Care, Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, U.O.C di Medicina Interna con Stroke Care, Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, U.O.C di Medicina Interna con Stroke Care, Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, U.O.C di Medicina Interna con Stroke Care, Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, U.O.C di Medicina Interna con Stroke Care, Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro” (PROMISE), University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo