Affected gene: GLB1
Transmission: Autosomal Recessive
Mutation:  Felis_catus_9.0    C2    g.158932167C>G    c.1448G>C
OMIA link:  000402-9685

Breeds suitable for testing: Asian, Burmese, Domestic Shorthair, Highland Lynx, Korat, Oriental Shorthair, Peterbald, Pixie-bob, Siamese, Thai

Symptoms:
Lysosomal storage disease due to the absence of the enzyme beta-galactosidase and characterized by the accumulation of GM1 gangliosides (a type of glycolipid) in various tissues. This disease leads to progressive neuromuscular dysfunction and growth retardation from an early age.

Reference:
Martin DR, Rigat BA, Foureman P et al. (2008) Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab. 94(2):212–221. [pubmed/18353697]