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GM2 Gangliosidosis (Burmese Type)

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Test Overview:

GM2 Gangliosidosis (Burmese Type) affects cats and is an inherited lysosomal storage disorder. Cats with this disease have insufficient activity of the beta-hexosaminidase B enzyme. This enzyme is responsible for the breakdown of the carbohydrate ganglioside GM2 in the cells. As a result, the GM2 ganglioside accumulates in the nerve and brain cells of the cat. Cats affected by this disease typically have neurologic deficiencies during 6-8 weeks of age. The symptoms will usually start with limb and head tremors, and progress to imbalance and gait abnormalities. Once a cat shows signs of the disease, the disease tends to progress rapidly, usually resulting in the cat being euthanized due to their inability to eat or stand.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

HEXB

Variant Detected:

c.1244-8_1250del15; g.chrA1:139630549-139630563

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):

Bradbury AM, Morrison NE, Hwang M, Cox NR, Baker HJ, Martin DR. Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab. 2009 May;97(1):53-9. PubMed PMID: 19231264 PubMed: 19231264

Associated Breed(s):

Burmese, Burmilla,
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