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Gangliosidosis (GM2 Type II-1), also known as Sanddhoff disease and GM2 gangliosidosis variant 0, is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Información específica de la prueba
Gangliosidosis (GM2 Type II-1), also known as Sanddhoff disease and GM2 gangliosidosis variant 0, is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.
This variant is for the Korat cat breed.
Características clínicas
Cats affected with GM2 show progressive neuromuscular dysfunction and impaired growth from an early age. Affected kittens have head tremors at the beginning followed by impaired coordination of leg movements which eventually lead to paralysis.
Información adicional
Referencias
Pubmed ID: 8178934
Omia ID: 1462