Glycogen Storage Disease Type IA, Von Gierke Disease, GSD IA
Glycogen is the form in which our bodies store sugar. It is a long, complex molecule that is primarily stored in the liver, heart, kidney, and muscle. Glycogen is those tissues’ primary energy source. In GSD, glycogen accumulates to abnormal levels, leading to enlargement and malfunction of these vital organs. Dogs with Type I GSD have very severe symptoms and are markedly hypoglycemic.
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Signs and symptoms
Puppies with this disease often present severely hypoglycemic: lethargic, weak, and possibly seizing.
Signs typically develop after only a few weeks, and most puppies with this disease die before two months of age.Uncover health risks with Embark
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Diagnosis
Genetic and laboratory testing are used to diagnose this disease.
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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 IA result so you can work together to plan ongoing care and monitoring.
- Schedule regular checkups and lab testing as recommended to monitor liver function and blood sugar levels.
- Work with your vet to provide supportive care that includes a balanced diet and consistent feeding schedule to help maintain steady energy levels.
- Keep your dog’s routine calm and predictable, and contact your vet right away if you notice signs such as weakness, lethargy, or tremors.
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Genetic Information
This variant was first described in the German Pinscher.
This variant is inherited in an autosomal recessive manner, meaning that a dog requires two copies of the variant to show signs of Glycogen Storage Disease Type IA (GSDIA).
Gene names:
G6PC1 Exon 5 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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