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

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

Symptoms:  
A lysosomal storage disease caused by the absence of the enzyme beta-galactosidase, 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]