Gangliosidosis (GM2 Type II) – Korat
Kodas: K640
Short description
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.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | HEXB |
| Chromosome | A1 |
| Mutation | c.39delC |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM2, variant 0; Sandhoff |
Clinical features
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.
References
Pubmed ID: 8178934
Year published: 1994
Omia ID: 1462
Omia variant ID:
Turnaround information
- 10 working days