GSD II / Pompe disease (GAA-related) - Lapphund

What does this test examine?

This genetic test analyses the GAA variant c.2237G>A for GSD II / Pompe disease in the Lapphund. The condition is also referred to as GSD II / Pompe disease, glycogen storage disease, GSD and a GAA-related metabolic disease.

What does this disease mean?

GSD II is a lysosomal glycogen storage disease. Affected dogs can develop muscle weakness, reduced stamina, swallowing or feeding difficulties, poor growth, breathing problems and cardiac muscle changes due to glycogen accumulation. In young dogs the disease can be severe and progressive.

GAA encodes acid alpha-glucosidase, an enzyme that breaks down glycogen in lysosomes. The tested variant disrupts this enzyme function, allowing glycogen to accumulate in cells and damage mainly muscle and cardiac tissue.

Inheritance and result

The condition follows an autosomal recessive inheritance pattern. Carriers have one copy and are usually not affected themselves; dogs with two copies develop the tested form of the disease.

• Clear: the tested variant was not detected.
• Carrier: one copy was detected; this is especially relevant for breeding plans.
• Affected: two copies were detected; this genotype causes the tested disease.

Practical value of this test

The test makes a hidden recessive risk visible before breeding decisions are made. This is practically important because carriers can look healthy, while two carriers can produce affected puppies.

• Supports breeding selection and safe mating plans.
• Helps identify hidden carriers before they are unknowingly used for breeding.
• Reduces the risk of puppies with a severe inherited metabolic disease.
• Provides clear genetic information when compatible signs or family history are relevant.