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Primary Hyperoxaluria
Test Overview:
Primary hyperoxaluria (PH) is a rare (8.5%) autosomal recessive disorder of glyoxylate metabolism in the Coton du Tulear. 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.
Category:
Urinary system / Urologic - Associated with the kidneys, bladder, ureters and urethra
Gene:
LOC100855679 (AGXT) on Chromosome 25
Variant Detected:
Base Substitution c.996G>A p.Gly102Ser
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Vidgren, G. et al. Primary hyperoxaluria in Coton de Tulear. (2011) Animal Genet 43(3);356-361.
Associated Breed(s):
Coton De Tulear, Mixed Breed,
