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Gangliosidosis GM2 (HEX B) Overview

Gangliosidosis GM2 (HEX B)
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Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)

Gene: HEXA on Chromosome 30

Variant Detected: Base Substitution G>A

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: GM2 gangliosidosis (poodle type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

Research Citation(s):
Vet J. 2012 Dec;194(3):412-6. [PubMed: 22766310]
J Vet Med Sci. 2013 Oct 25. [PubMed: 24161966]
J Vet Intern Med. 2010 Sep-Oct; 24(5):1013-9. [PubMed: 20695991]


Associated Breed(s): Labradoodle ,  Toy Poodle,  Mixed Breed,  Schnoodle,