GM2 Gangliosidosis
Breed: Goldendoodle
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
GM2 Gangliosidosis
OMIA
403
Gene Name
HEXB
Mutation
c.618-620delCCT
Test Type
Genetic Disease/Disorder
Details
Gangliosidosis is a rare metabolic disorder in dogs. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay.
Details 2
Gangliosidosis is a lysosomal storage disease caused by beta galactosidase deficiency and characterized by progressive neurological deterioration. It is caused by breed-specific mutations. It is commonly known as storage disease because dogs that suffer from it lack an enzyme in their brain that helps with the breakdown of old molecules which build up in the brain effecting the nervous system. Generalised symptoms can vary greatly between dogs but can include: lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay.
Published
Kohyama, M., Yabuki, A., Ochiai, K., Nakamoto, Y., Uchida, K., Hasegawa, D., Takahashi, K., Kawaguchi, H., Tsuboi, M., Yamato, O. : In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016. Pubmed reference: 27036194. DOI: 10.1186/s12917-016-0691-y.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA