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H361

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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2. Collect DNA sample

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3. Results

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