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Gangliosidosis type 1 (GM2, B variant), also known as Sandhoff disease, is an early onset form of lysosomal storage disease.
10 working days
Specifications
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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), also known as Sandhoff disease, is an early onset form of lysosomal storage disease. It causes a buildup of ganglioside (a type of glycolipid) in cells of various tissue but especially in the nervous system.
Clinical features
Dogs affected with Gangliosidosis type 1 (GM2, B variant) show neurologic signs as puppies or young adults. These include vision loss, behavior changes, abnormal gait, and seizures.
Additional information
References
Pubmed ID: 22766310
Omia ID: 1462