GM2 Gangliosidosis (Var 0)
        
            Breeds
        
    
    
                
                Relevance Rating: There is moderate evidence or research available  in this breed 
                
            
            
            
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
            
            
            
                
                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 
                
            
            
        
        General
        
            Disease Name
        
    
    
            GM2 Gangliosidosis (Var 0)
            
        
        
        
            OMIA
        
    
    
            1462
            
        
        
        
            Gene Name
        
    
    
            HEXB
            
        
        
        
            Mutation
        
    
    
            c.283delG
            
        
        
        
            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. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
            
        
        
        
            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. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age
            
        
        
        
            Published
        
    
    
            Rahman, M.M., Chang, H.S., Mizukami, K., Hossain, M.A., Yabuki, A., Tamura, S., Kitagawa, M., Mitani, S., Higo, T., Uddin, M.M., Uchida, K., Yamato, O. : A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease). Vet J :, 2012. Pubmed reference: 22766310. DOI: 10.1016/j.tvjl.2012.05.021.
            
        
        
        
            Body/System/Process
        
    
    
            Metabolic
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Golden Retriever, Shiba-Inu, Toy Poodle
            
        
         Donate
                Donate