About the disease
Burmese GM2 gangliosidosis is a fatal, neurological lysosomal storage disease that is caused by a mutation (15 base pair deletion) in the β-subunit of the feline hexosaminadase (HEXB) gene.
Affected kittens typically show mild tremors and lack of coordination beginning at 6 to 8 weeks of age. The
disease is autosomal recessive, meaning that two copies of the mutant gene are required for disease.
Burmese GM2 gangliosidosis is a fatal, neurological lysosomal storage disease that is caused by a mutation (15 base pair deletion) in the β-subunit of the feline hexosaminadase (HEXB) gene.
Affected kittens typically show mild tremors and lack of coordination beginning at 6 to 8 weeks of age. The
disease is autosomal recessive, meaning that two copies of the mutant gene are required for disease.
Interpretation of results
A Normal Burmese GM2 genetic test result means that the cat does not have the known genetic mutation causing Burmese GM2 gangliosidosis.
A Carrier Burmese GM2 genetic test result means that the cat has one copy of the Burmese GM2 mutation. The cat will not have Burmese GM2 gangliosidosis, but may pass the mutation to their offspring.
An Affected Burmese GM2 genetic test result means that the cat has two copies of the Burmese GM2 mutation. The cat will have Burmese GM2 gangliosidosis.
Each certificate we issue will specify whether the cat is Normal, Carrier or Affected for the known Burmese GM2 gangliosidosis mutation.
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