Select your country
Loading...
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.
$ 50.00
1
Associated Breed(s):
Click here to view Associated Breeds
Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
LOC100855679 (AGXT) on Chromosome 25
Variant Detected:
Base Substitution c.996G>A p.Gly102Ser
Mode of Inheritance:
Recomended Screening:
Research Citation(s):