Gangliosidosis (GM1) – Korat and Siamese
Kodas: K898
Short description
Gangliosidosis (GM1) is a fatal neurodegenerative disease.
General information
Gangliosidosis (GM1) is a fatal neurodegenerative disease. The lysosomal enzyme β-D-galactosidase cleaves terminal galactose residues from a variety of molecules. Due to a mutation the enzyme cannot be produced properly anymore, which leads to an accumulation of GM1 gangliosides (a type of glycolipid) in various tissues.
Specifications
| Breeds | |
|---|---|
| Gene | GLB1 |
| Chromosome | C2 |
| Mutation | c.1448G>C |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM1 |
Clinical features
The lack of the GM1 enzyme causes the lysosomal storage disease, which is characterised by progressive neuromuscular dysfunction and impaired growth starting at an early age.
Additional information
Specific breeds are undefined.
References
Pubmed ID: 18353697
Year published: 2008
Omia ID: 402
Omia variant ID:
Turnaround information
- 10 working days