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Gangliosidosis, GM2, TYPE II – 3, 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.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Gangliosidosis, GM2, TYPE II – 3, 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.
Clinical features
Cats affected with Gangliosidosis, GM2, TYPE II – 3 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.
Additional information
References
Pubmed ID: 15081585
Omia ID: 1462
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