Pompe's Disease
Glycogen is the form in which our bodies store sugar: they are long, complex molecules that are primarily stored in the liver, heart, kidney, and muscle and are those tissues’ primary source of energy. In GSDs, glycogen accumulates to abnormal levels leading to enlargement and malfunction of these vital organs. Dogs with Type II GSD are severely affected with a dilated esophagus (megaesophagus) and an enlarged heart.
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Signs and symptoms
This form of glycogen storage disease can cause progressive weight loss, vomiting/regurgitation, and cardiac abnormalities. Breathing difficulties secondary to heart failure and/or megaesophagus are also common.
Onset of signs is typically around 6 months and rapidly progresses until death around 1.5 years. -
Diagnosis
Genetic and laboratory testing used to diagnose this disease. Imaging modalities (radiographs, ultrasound) are used to diagnose secondary complications.
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Treatment
There is no treatment except supportive care for the clinical signs the affected dog develops.
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What to do if your dog is at risk
Actions
- Focus on palliative therapies to increase your dog's comfort and quality of life.
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Genetic Information
This mutation was first described in Finnish and Swedish Lapphunds.
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.
Gene names:
GAA (Exon 15) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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