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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

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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