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GM2 gangliosidosis (AB variant)

General description

GM2 gangliosidosis is a metabolic disorder that belongs to the group of lysosomal storage diseases. In this condition, fat-sugar compounds (gangliosides) accumulate in brain cells, leading to severe functional impairment. Affected cats primarily exhibit nervous system disorders. These include balance disorders (ataxia), tremors during purposeful movements (intentional tremor), and hypersensitivity to noise. As the disease progresses, it also leads to impaired vision, which can eventually result in complete blindness. Unlike other forms of GM2 gangliosidosis, symptoms of the AB variant do not appear until relatively late, at around 14 months of age.

Breeds

Test number Included only in LABOGeneticsXXL – Cat
Abbreviation GM2
Inheritance autosomal-recessive
Gene GM2A
Mutation DEL
Literature OMIA:001427-9685