GM2 - Gangliosidosis Overview
GM2 - Gangliosidosis
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)
Gene: HEX B
Variant Detected: Deletion
Severity: Scale 5 is the most extreme in severity. It comprises rapidly fatal diseases that may also cause a significant decrease in the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: Also referred to as Sandhoff disease (SD) is an autosomal recessive neurodegenerative disease caused by a mutation in the gene for the -subunit of -N-acetylhexosaminidase (Hex), resulting in the inability to catabolize ganglioside GM2 within the lysosomes. Has varying degress of severity.
Research Citation(s): ASN Neuro. 2015 Mar-Apr; 7(2): 1759091415569908.
Mol Genet Metab. 2009 May;97(1):53-9
Associated Breed(s): Korat, Burmese, Domestic Short Hair, Mixed Breed / Unknown Breed (Feline),