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Primary Hyperoxaluria

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 in this breed

General

Disease Name
Primary Hyperoxaluria
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.
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