Pompe disease · Pompe-Krankheit · Glykogenose Typ II · Acid maltase deficiency · Glycogenosis type II · Glycogen storage disease II
Glycogen storage disease type II is an inherited metabolic disorder where the body lacks a vital enzyme needed to break down glycogen, which is a stored form of sugar used for energy. Without this enzyme, glycogen builds up to toxic levels inside the cells of the muscles and major organs. This accumulation gradually damages and destroys these tissues, particularly affecting the skeletal muscles and the heart.
Symptoms typically appear in puppies within the first few months of life, beginning with progressive muscle weakness, difficulty swallowing, and vomiting. As the disease rapidly advances, it leads to severe respiratory distress and heart failure.
This condition is incurable and ultimately fatal, meaning treatment is limited to supportive care to maintain comfort. Veterinary costs for diagnostic testing and palliative care generally range from 500 to 2,000 EUR.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the General / metabolic.