GM2 gangliosidosis type AB / GM2 activator deficiency (GM2A-related) - Cat

GM2 gangliosidosis type AB in cats

This DNA test analyses the GM2A variant c.516_519delGGTC, which causes GM2 gangliosidosis type AB in cats. The condition is also described as GM2 activator deficiency and belongs to the lysosomal storage disease group. GM2A encodes the GM2 activator protein, which is needed for normal breakdown of GM2 gangliosides.

When both gene copies carry the tested variant, GM2 gangliosides accumulate in nervous tissue. Affected cats develop a severe progressive neurological disorder, with signs such as poor coordination, tremors, weakness, movement problems and early deterioration.

Practical value of this test

• Determines whether the cat is clear, a carrier or genetically affected for the tested GM2A variant.
• Helps breeders avoid carrier combinations and prevent affected kittens.
• Provides clear genetic information when GM2 gangliosidosis, activator deficiency or progressive neurological signs are relevant in a line.

The trait follows an autosomal recessive mode of inheritance. Carriers are usually not affected themselves, but can pass the variant to offspring.