Pompe disease is a genetic condition. It is caused by problems in the GAA gene. This leads to a lack of an enzyme called lysosomal acid α-glucosidase. This enzyme is crucial for breaking down glycogen in cells. Without it, glycogen builds up and causes harm. The number of people with Pompe disease is not clear. This is because different places use different ways to ...

China has been on a mission to improve the diagnosis of inherited metabolic disorders (IMDs) in newborns. The focus has been on urinary organic acid analysis. This type of testing is vital for spotting these disorders early. A five-year plan was put into action to standardize how these tests are done across the country. The plan started in 2019 and wra...