Glykogen Storage Disease IIIa (GSD 3a Dog)
Glycogen storage disease IIIa (GSD 3a) is a metabolic disease. In type 3a, glycogen cannot be metabolised due to an enzyme defect. This leads to glycogen accumulation in the liver and muscles, which are impaired in their function. The symptoms of lethargy, exercise intolerance and collapse occur at the age of 14 months.
The disease occurs in the Curly Coated Retriever. The inheritance is autosomal recessive.
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Symptoms
- Episodic hypoglycaemia (low blood sugar)
- Lethargy
- Exercise intolerance
- Collapse
General Information
- Glycogen storage disease IIIa is a metabolic disease.
- In type 3a, glycogen cannot be metabolised due to an enzyme defect.
- Glycogen accumulates in the liver and muscles, which are impaired in their function.
- The first symptoms do not appear until the dog is 14 months old.
- The dog's health is then severely impaired.
Breeds affected
Curly Coated Retriever
Test Information
This mutation test detects the deletion of a single base pair (c.4223delA) in the AGL gene.
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Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs when both alleles of the gene are affected by the mutation (gsd3/gsd3). Dogs that have only one allele with the causative mutation (N/gsd3) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no variants for GSD3 and thus cannot pass it on to offspring.
N/gsd3 = a carrier
The dog is a clinically healthy carrier. The variation is passed on 50% to the offspring, which are also carriers.
gsd3/gsd3 = affected
The variation will be passed on to 100% to the offspring.
Recommendations
- Carrier animals can be bred to normal animals (N/gsd3 x N/N). Before using the offspring in breeding, it should be tested whether they are normal or carriers.
- Mating two carrier animals (N/gsd3 x N/gsd3) should be avoided because there is a 25% chance that the offspring will be affected.
- Affected animals (gsd3/gsd3) should be excluded from breeding.
Literature
Gregory, BL., Shelton, GD., Bali, DS., Chen, YT., Fyfe, JC.: Glycogen storage disease type IIIa in curly-coated retrievers. J Vet Intern Med 21:40-6, 2007. Pubmed reference: 17338148.
Further information is available at: Online Mendelian Inheritance in Animals.