Primary Hyperoxaluria
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  in this breed 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Primary Hyperoxaluria
            
        
        
        
            OMIA
        
    
    
            1672
            
        
        
        
            Gene Name
        
    
    
            AGXT
            
        
        
        
            Mutation
        
    
    
            c.996G>A
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Primary hyperoxaluria (PH) is a rare disorder of glyoxylate metabolism. Oxalate crystals form in the kidney causing sudden illness and death in 3-4 week old pups, and possibly neonates.
            
        
        
        
            Details 2
        
    
    
            Primary hyperoxaluria (PH) is a rare autosomal recessive disorder of glyoxylate metabolism in humans. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys. Deficiencies in glyoxylate-metabolizing enzymes alanine-glyoxylate aminotransferase (AGXT) or glyoxylate reductase/hydroxypyruvate reductase (GRHPR) occur in 95% of PH cases...This preliminary study reports PH as a cause of neonatal death in Finnish Coton de Tulear and suggests that genetic testing of dogs be carried out before breeding to prevent the birth of affected offspring. (Vidgren et al, 2012)
            
        
        
        
            Published
        
    
    
            Vidgren, G., Vainio-Siukola, K., Honkasalo, S., Dillard, K., Anttila, M., Vauhkonen, H. : Primary hyperoxaluria in Coton de Tulear. Anim Genet 43:356-61, 2012. Pubmed reference: 22486513. DOI: 10.1111/j.1365-2052.2011.02260.x.
            
        
        
        
            Body/System/Process
        
    
    
            Neurologic
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Coton de Tulear
            
        
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