Quick Summary
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Phenotype: Affected kittens may die at or soon after birth, but a few can appear clinically normal till about 5 months of age. These juveniles develop a persistent fever and later show signs of muscle tremors. The signs progress to generalized muscle atrophy and eventual death.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, GSD = Glycogen storage disease type IV (GSD IV)
Breeds appropriate for testing: Norwegian Forest Cat
Explanation of Results:
- Cats with N/N genotype will not have glycogen storage disease type IV and cannot transmit this GSD IV variant to their offspring.
- Cats with N/GSD genotype will not have glycogen storage disease type IV, but are carriers. They will transmit this GSD IV variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% kittens with glycogen storage disease type IV.
- Cats with GSD/GSD genotype will have glycogen storage disease type IV, a fatal condition.
Sample Collection:
Cat DNA tests are carried out using cells collected from your cat's cheeks and gums using household cotton swabs.
The cat DNA submission form with instructions, pricing, and a place to tape the cotton swabs can be printed from your home computer after signing up for a MyVGL account and placing an order. Test kits are not mailed.
Step-By-Step Instructions:
1.
Purchase regular household cotton swabs for cat DNA collection (the cotton swabs can be purchased at a pharmacy or drug store)
2.
Use both ends of the two cotton swabs for a total of four swabs.
3.
Collect the DNA sample by swabbing the cheek and gums of the cat.
4.
After swabbing the cheek and gums, tape the cotton swabs to the bar-coded submission form printed from your MyVGL account.
Norwegian Forest cats can inherit a defective glycogen branching enzyme (GBE) that causes a severe error in glycogen (sugar) storage in cells. Abnormal glycogen accumulates in muscle, liver, and neurons causing progressive organ dysfunctions. The disease is inherited as an autosomal recessive trait. Most, affected kittens may die at or soon after birth likely from an inability to produce energy. In rare instances, some affected kittens appear clinically normal until about 5 months of age when normal development ceases. These juveniles develop a persistent fever and later show signs of muscle tremors. The signs progress to generalized muscle atrophy and eventual death.
Glycogen storage disease IV (GSD IV) in the Norwegian Forest Cat is inherited in an autosomal recessive fashion. Two affected copies are necessary for the disease to manifest and both sexes are affected with equal frequency. Testing for GSD IV can help breeders identify carriers of GSD IV in Norwegian Forest Cats and select mates for breeding to avoid producing affected kittens.