GM2 gangliosidosis (AB variant)
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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
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Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | GM2 |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | GM2A |
| Mutation | DEL |
| Literature | OMIA:001427-9685 |
