Glycogen Storage Disease Type IV
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A complex rearrangement of the GBEI gene in the Norwegian Forest Cat causes glycogen storage disease type IV. Affected kittens typically die at or soon after birth, but some can survive for several months during which time they develop neuromuscular and cardiac disease. The disease results from the accumulation of an abnormal form of glycogen (a form of glucose) within heart, liver and brain cells.
This is an autosomal recessive mutation , meaning that two copies of the mutant gene are required for the cat to be affected .
Interpretation of results
Normal The cat does not have the known genetic mutation causing Glycogen Storage Disease Type IV in the Norwegian Forest Cat.
Carrier The cat has one copy of the GSD IV mutation. The cat will not have Glycogen Storage Disease Type IV, but may pass the mutation to their offspring.
Affected The cat has two copies of the GSD IV mutation. The cat will have Glycogen Storage Disease Type IV.