Gangliosidosis GM2 (Poodle Type) Overview
Gangliosidosis GM2 (Poodle Type)
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICEADD TO CART
Category: Metabolic - Associated with the enzymes and metabolic processes of cells
Gene: Hexosaminidase subunit beta (HEXB) on Chromosome 2
Variant Detected: Nucleotide Deletion c.391delG p.Val95fsX
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): Rahman, M.M. A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). (2012), The Veterinary Journal, 194(3);412–416.
Associated Breed(s): Labradoodle , Toy Poodle, Mixed Breed, Schnoodle, Australian Cobberdog, Australian Labradoodle , Cockapoo, Dwarf Poodle, Goldendoodle, Groodle, Labradoodle Retrodoodle ,