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.Uncover health risks with Embark
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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
- Talk to your vet about your dog’s glycogen storage disease type II result so you can work together to plan ongoing care and monitoring.
- Schedule regular checkups to monitor your dog’s heart, muscle strength, and breathing, as these areas can be affected over time.
- Work with your vet to provide supportive care that keeps your dog comfortable and helps manage any feeding or breathing difficulties.
- Keep your dog’s environment calm and cool, and avoid strenuous exercise or excitement.
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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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