Gangliosidosis GM1 / GM1 gangliosidosis (GLB1-related) - Korat and Siamese

GM1 gangliosidosis in Korat and Siamese cats

This genetic test analyses the GLB1 variant c.1448G>C, which causes Gangliosidosis GM1, also called GM1 gangliosidosis or beta-galactosidase deficiency, in cats. GLB1 encodes beta-galactosidase, a lysosomal enzyme needed for normal breakdown of certain sugar-rich lipids.

When this enzyme does not function properly, gangliosides and related substances accumulate, especially in nervous tissue. Affected kittens typically develop progressive neurological signs such as tremors, balance problems, poor coordination, weakness, growth or developmental problems and deterioration.

Practical value of this test

• Determines whether a Korat or Siamese cat is clear, a carrier or genetically affected for the tested GLB1 variant.
• Helps breeders avoid carrier combinations and prevent affected kittens.
• Provides clear genetic information when GM1 gangliosidosis, lysosomal storage disease or progressive neurological signs are relevant in a line.

The trait follows an autosomal recessive mode of inheritance. Cats with two copies of the variant are genetically affected; carriers are not affected themselves but can pass the variant to offspring.