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Hyperoxaluria (GRHPR) Overview

Hyperoxaluria (GRHPR)
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Category: Metabolic (Associated with the Body's Enzymes and Cell Metabolism)

Gene: GRHPR

Variant Detected: Base Substitution G>A

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

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.

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 Short Hair,  Domestic Medium / Long Hair,