Glycogen Storage Disease

About the disease

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.

About the test

The Molecular Diagnostic Unit can now offer a genetic test to diagnose glycogen storage disease type IV This condition is autosomal recessive, meaning that two copies of the mutant GBEI gene are required for the cat to show disease. This genetic test is based on PCR that can reliably distinguish between affected, carrier and normal cats.

 

Interpretation of results

A Normal GSD IV genetic test result means that the cat does not have the known genetic mutation causing Glycogen Storage Disease Type IV in the Norwegian Forest Cat.

A Carrier GSD IV genetic test result means that 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.

An Affected GSD IV genetic test result means that the cat has two copies of the GSD IV mutation. The cat will have Glycogen Storage Disease Type IV.

Each certificate we issue will specify whether the cat is Normal, Carrier or Affected for the known Glycogen Storage Disease Type IV mutation.

 

Further information

View and print 'Genetic tests for cats: what the practitioner needs to know' from our Feline Update Archive

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