Pompe Disease

General Information: Pompe Disease (GSDII), also known as Glycogen Storage Disease Type II, is an inherited metabolic disorder that affects dogs by disrupting the normal breakdown of glycogen, a primary energy source. Due to a deficiency in the enzyme needed to break down glycogen, affected dogs experience an accumulation of glycogen in multiple organs, including muscles, liver, heart, and brain. Symptoms typically present around 6 months of age and include generalized muscle weakness, an enlarged heart, and a dilated esophagus (megaesophagus). Megaesophagus leads to regurgitation, vomiting, and an increased risk of aspiration pneumonia. Over time, muscle weakness and regurgitation worsen, and dogs may develop an unusual bark, excessive panting, and difficulty breathing. Unfortunately, affected dogs often succumb to heart failure or are euthanized by 1.5 years of age due to the severity of the disease.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Pompe Disease (GSDII), also known as Glycogen Storage Disease Type II, involves screening for mutations in the GAA gene to determine carrier status. This disorder is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers of the gene mutation do not typically show symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent producing affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Genetic testing is essential for responsible breeding practices, ensuring that dogs that are not carriers of the mutation do not pose a risk of producing affected puppies.