Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

• Published in: International journal of molecular sciences Vol. 19; no. 12; p. 3726
• Main Authors: Duro, Giovanni, Zizzo, Carmela, Cammarata, Giuseppe, Burlina, Alessandro, Burlina, Alberto, Polo, Giulia, Scalia, Simone, Oliveri, Roberta, Sciarrino, Serafina, Francofonte, Daniele, Alessandro, Riccardo, Pisani, Antonio, Palladino, Giuseppe, Napoletano, Rosa, Tenuta, Maurizio, Masarone, Daniele, Limongelli, Giuseppe, Riccio, Eleonora, Frustaci, Andrea, Chimenti, Cristina, Ferri, Claudio, Pieruzzi, Federico, Pieroni, Maurizio, Spada, Marco, Castana, Cinzia, Caserta, Marina, Monte, Ines, Rodolico, Margherita Stefania, Feriozzi, Sandro, Battaglia, Yuri, Amico, Luisa, Losi, Maria Angela, Autore, Camillo, Lombardi, Marco, Zoccali, Carmine, Testa, Alessandra, Postorino, Maurizio, Mignani, Renzo, Zachara, Elisabetta, Giordano, Antonello, Colomba, Paolo
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 23.11.2018; MDPI
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; alpha-Galactosidase - genetics; Amino Acid Substitution; Biomarkers; Child; Child, Preschool; Disease; Enzymes; Fabry Disease - genetics; Female; Females; Gene expression; Genotype; Genotype & phenotype; Glycolipids - genetics; Humans; Hypotheses; Infant; Infant, Newborn; Male; Males; Metabolic disorders; Middle Aged; Mutation; Nervous system; Pathology; Patients; Pediatrics; Phenotype; Sphingolipids - genetics; Young Adult; Fabry disease; GLA gene; LysoGb3

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date,...