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Gangliosidosis type 1 (GM2, B variant) is a lysosomal storage disease.
10 working days
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Gangliosidosis type 1 (GM2, B variant) is a lysosomal storage disease. It is caused by a lack of an enzyme that allows the build up of toxic substances in the nerve cells. It is a recessive genetic disorder.
Clinical features
Dogs affected with Gangliosidosis type 1, exhibit progressive cerebellar ataxia, altered mental status and vision deficits. The disease is progressive and leads to death or requires euthanasia within a few months.
Additional information
References
Pubmed ID: 23266199
Omia ID: 1461
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