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Gangliosidosis, GM2, TYPE II – 3, also known as Sanddhoff disease and GM2 gangliosidosis variant 0, is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.

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, GM2, TYPE II – 3, also known as Sanddhoff disease and GM2 gangliosidosis variant 0, is a lysosomal storage disease in which there is a buildup of GM2 gangliosides (a type of glycolipid) in various tissues.

Clinical features

Cats affected with Gangliosidosis, GM2, TYPE II – 3 show progressive neuromuscular dysfunction and impaired growth from an early age. Affected kittens have head tremors at the beginning followed by impaired coordination of leg movements which eventually lead to paralysis.

Additional information

References

Pubmed ID: 16872651

Omia ID: 1462

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3. Results

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