GAA gene

People with late-onset Pompe disease (LOPD) rarely have genetic variations in genes that are important for making glycogen in muscle cells, a new study suggests. “We did not find a single variant that strongly affected the phenotype,” or observable characteristics in patients that result from the expression of a…

Three siblings with Pompe disease caused by the same mutations were described in a recent report. Despite all having the same disease-causing mutations, the clinical presentation of the three children differed dramatically — one began showing symptoms in infancy, while another had not shown clinical abnormalities at the age…

Researchers created and characterized an infantile-onset Pompe disease (IOPD) mouse model that carried a genetic defect commonly found among people with Southern Han Chinese ancestry, a study reported. The model recapitulated most of the signs and symptoms of IOPD and, according to researchers, is ideal to evaluate potential IOPD…

A new cell-based therapy containing a modified version of the GAA gene mutated in Pompe disease, can effectively clear out glycogen in a number of tissues, including the heart, skeletal muscles, and central nervous system (CNS), a mouse study showed. The new treatment functions as a blood stem cell…

The same common GAA gene variants that cause Pompe disease can lead to symptoms first appearing at very different ages, and this may be due to factors that modify how genes work, a study of a global database suggests. These findings “will be important for diagnosis, genetic counseling, decision making…

Based on a literature and database analysis, the predicted genetic prevalence of disease-related variants in the GAA gene — the underlying cause of Pompe disease — is higher in the Korean population than in Japanese, a study indicates. The study, “Two Approaches for a Genetic Analysis…

A better understanding of Pompe disease-causing genetic mutations may help with early treatment intervention, even if symptoms are subtle, a small Hungarian study suggests. Researchers found that the precise localization of a mutation determines the impact on GAA enzyme activity, which in turn has been associated with disease onset.

Four new mutations in the GAA gene have been identified in a group of people with late-onset Pompe disease (LOPD), according to a study in Spain. The study “Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants” was published in the Orphanet…

Electromyography (EMG) is a medical test that doctors can use to assess the health of muscles and nerves, how well they are working and communicating. An EMG may be given to diagnose late-onset Pompe disease, a rare, heritable, and progressive disorder characterized by the buildup of large sugar…

One test that doctors use to diagnose Pompe disease, a rare genetic disease caused by mutations in the GAA gene, is an enzyme activity test. GAA provides cells with the instructions necessary to make an enzyme that plays a role in breaking down a complex sugar molecule called…