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