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H490

Gangliosidosis type 1 (GM2, B variant), also known as Sandhoff disease, is an early onset form of 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), 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

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3. Results

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