Glycogen Storage Disease Ia

General Information: Glycogen Storage Disease Ia (GSD1a) is a genetic metabolic disorder that affects dogs by preventing the proper breakdown of glycogen, a primary energy source. Due to insufficient enzyme activity, glycogen accumulates in organs such as the liver, heart, and kidneys. Many affected dogs die in utero or at birth, resulting in small litter sizes with mummified fetuses and stillborn puppies. Surviving puppies exhibit symptoms such as failure to thrive, lethargy, low blood sugar, an enlarged liver, coma, and difficulty breathing. Without nutritional therapy, affected dogs typically die within 2 months of age, and even with therapy, they rarely survive beyond 6 months.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Glycogen Storage Disease Ia (GSD1a) involves screening for mutations in the G6PC gene to determine carrier status. This disorder is inherited in an autosomal recessive manner, meaning that a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent producing affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Genetic testing is essential for responsible breeding practices, ensuring that dogs that are not carriers of the mutation do not pose a risk of producing affected puppies.