Causes

Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as Pompe disease. Genetics of Pompe disease Pompe disease is caused by mutations in the GAA gene. These mutations lead to your cells not being able to properly make…

If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning. What do genetic counselors do? Genetic…

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases…

Pompe disease is a rare disorder caused by mutations in a gene called GAA, which provides instructions for making an important enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is responsible for breaking down a sugar molecule called glycogen to provide energy to…

Pompe disease is a rare genetic disease characterized by muscle weakness, among other symptoms. If you or your partner has Pompe disease, you may wonder whether the disease will also affect your future children. How is Pompe disease inherited? Pompe disease is inherited in a recessive pattern,…

Pompe disease is a rare genetic disease in which a type of complex sugar molecule called glycogen builds up within cells and affects their proper function, leading to problems in many organs, especially the heart. All Pompe disease patients have heart-related symptoms, but the risk of heart failure…

Pompe is a type of glycogen storage disease in which a complex sugar molecule known as glycogen builds up within cells, especially in the muscle cells. A defect in the GAA gene causes low production of the acid alpha-glucosidase enzyme that is needed to break down glycogen into…

Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. It is characterized by the buildup of glycogen, a complex sugar molecule, in cells and tissues due to the absence or improper functioning of an enzyme called acid alpha-glucosidase. Changes to diet and…

Information about rare genetic disorders such as Pompe disease can be hard to find, complicating life for both patients and caregivers. This article offers an easy reference to some of the most commonly asked questions about Pompe disease. What is Pompe disease? Pompe disease is a rare and progressive genetic…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…