Article
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Aging - 3 Aug 2020
Taverna Simona, Cammarata Giuseppe, Colomba Paolo, Sciarrino Serafina, Zizzo Carmela, Francofonte Daniele, Zora Marco, Scalia Simone, Brando Chiara, Curto Alessia Lo, Marsana Emanuela Maria, Olivieri Roberta, Vitale Silvia, Duro Giovanni
Abstract excerpt
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported. GAA catalyzes the hydrolysis of α-1,4 and α-1,6-glucosidic bonds of glycogen and its deficiency leads to lysosomal storage of glycogen in several tissues,...
Topics
- Glycogen Storage Disease Type II
- Humans
- Phenotype