Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Pompe disease, also known as glycogen storage disease type II, is a rare genetic condition produced by mutations in the GAA gene that encodes the acid alpha-glucosidase enzyme [1]. This lysosomal enzyme is responsible for the breakdown of glycogen into glucose leading to accumulation of glycogen in cells of all tissues of the body [2]. However, patients mainly develop symptoms related to dysfunction of smooth, cardiac and skeletal muscles and, neurons of the central nervous system [2].

Source: Neuromuscular Disorders - November 13, 2023 Category: Neurology Authors: Rafael Jenaro Martinez-Marin, David Reyes-Leiva, Andr és Nascimento, Nuria Muelas, C. Dominguez-González, Carmen Paradas, Montse Olivé, Samuel Ignacio Pascual Pascual, Josep Maria Grau, Miguel Angel Barba-Romero, Maria Teresa Gomez-Caravaca, Javier de Source Type: research