GAA mutations

Mexican Pompe patients carry 2 GAA gene mutations: Study

People with Pompe disease examined for a study in Mexico carried a combination of GAA gene mutations associated with both infantile and adult-onset types of the disease, a finding the authors said may be related to the genetic diversity of the Mexican population. “Further population-wide studies are required to…

New GAA mutations linked to infantile-onset disease

Three new mutations in the GAA gene were linked with heart disease and severe breathing problems in infants with infantile-onset Pompe disease (IOPD) in Malaysia, a study reports. “The novel mutations identified in this study expands the mutation spectrum for IOPD,” the researchers wrote. Also, among the 17 IOPD patients…