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Gangliosidosis GM1 (Japanese Domestic Type)

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Test Overview:

Gangliosidosis GM1 (Japanese Domestic Type) affects cats and is an inherited lysosomal storage disease. Cats suffering with this disease have insufficient beta-galactosidase enzyme activity. This beta-galactosidase enzyme is responsible for the breaking down of the specific Ganglioside (GM1) carbohydrate in the cells. Due to the disease, the ganglioside GM1 accumulates in the nerve and brain cells. Cats that are affected by this disease will typically have neurologic deficiencies around 3-4 months of age. The symptoms start with head or limb tremors and will progress to loss of vision, walking difficulties and seizures. Cats can usually die at 10 months of age as a result of disease progression or euthanazia.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

GLB1

Variant Detected:

c.1448G>C; g.chrC2:157031480

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Martin DR, Rigat BA, Foureman P, Varadarajan GS, Hwang M, Krum BK, Smith BF, Callahan JW, Mahuran DJ, Baker HJ. Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab. 2008 Jun;94(2):212-21. PubMed PMID: 18353697 PubMed: 18353697 Uddin MM, Hossain MA, Rahman MM, Chowdhury MA, Tanimoto T, Yabuki A, Mizukami K, Chang HS, Yamato O. Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. J Vet Med Sci. 2013;75(3):395-7. PubMed PMID: 23123943 PubMed: 23123943

Associated Breed(s):

Korat, Mixed Breed / Unknown Breed (Feline), Siamese,
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