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Test Overview:
A decrease in AGT or GRHPR enzymes. A rare disorder with symptoms including organ disorders/damage which can lead to damage of the eyes, bones, muscles, blood vessels and major organs including the heart. Affected kittens died of acute kidney disease between 5 and 9 months of age. Renal histopathology was consistent with nephrocalcinosis. Increased concentrations of L -glyceric acid and oxalate were observed in the urine from affected cats, and hepatic GRHPR activity was decreased suggestive of a condition analogous to human hyperoxaluria type II.
Category:
Metabolic - Associated with the enzymes and metabolic processes of cells
Gene:
GRHPR
Variant Detected:
Base Substitution G>A
Severity:
Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Journal of Heredity, Volume 100, Issue suppl_1, 1 July 2009, Pages S2–S7, https://doi.org/10.1093/jhered/esp038
Associated Breed(s):
Domestic Medium / Long Hair, Domestic Short Hair, Mixed Breed / Unknown Breed (Feline),