Disease overview

Gangliosidosis is a group of autosomal recessive lipid storage disorders characterized by the accumulations of lipids in the neurons. There are two forms of this disease (GM1 and GM2) caused by a deficiency in different enzymes. GM1 is associated with lysosomal β-d-galactosidase deficiency, while GM2 is characterized by a deficiency in hexosaminidase A (GM2, variant B), hexosaminidase B (GM2, variant 0), or GM2 activator (GM2, variant AB).

Gene name

HEXB (associated with GM2, variant 0), GM2A (associated with GM2, variant AB), GLB1 (associated with GM1)

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs of gangliosidosis include progressive neurological signs such as ataxia, dysmetria, tremor, and nystagmus. Some cats may also have an enlarged liver, facial dysmorphism, visual impairment, and clouded corneas. Cats will typically die or require euthanasia prior to 1 year of age.

How is it diagnosed

Diagnosis of gangliosidosis is based on clinical signs. Once suspected, a genetic test is recommended to confirm the diagnosis.

Breeds at higher risk

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Citations

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1887364/ https://pubmed.ncbi.nlm.nih.gov/19231264/ https://pubmed.ncbi.nlm.nih.gov/15081585/ https://pubmed.ncbi.nlm.nih.gov/16872651/ https://pubmed.ncbi.nlm.nih.gov/16200419/ https://pubmed.ncbi.nlm.nih.gov/18353697/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.