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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.
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Associated Breed(s):
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Category:
Genetic Diseases
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.
Gene:
GRHPR
Variant Detected:
Base Substitution G>A
Mode of Inheritance:
Recomended Screening:
Research Citation(s):