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Hyperoxaluria GRHPR (Domestic Short/Long Hair Type)

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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),
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