Glycogen storage disease II - Pompe disease (GAA: c.2237G>A)
Pompe disease (glycogen storage disease type II) is a genetic disorder that disrupts glucose metabolism, leading to excessive glycogen accumulation in the body. Affected dogs develop progressive muscle weakness, cardiac hypertrophy, and may present with megaesophagus accompanied by regurgitation and vomiting. This disease often causes severe cardio-respiratory complications and typically leads to premature death around 18 months of age.
Transmission
Autosomal recessiveBreed
Finnish Lapphund, Swedish Lapphund



