Hyperoxaluria GRHPR (Domestic Short/Long Hair Type)

Hyperoxaluria GRHPR (Domestic Short/Long Hair Type)

¥16,600
  • 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.
  • カテゴリー:
    代謝疾患 - 細胞内の酵素および代謝プロセスに関連する疾患
  • static-content..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

Hyperoxaluria GRHPR (Domestic Short/Long Hair Type)

¥16,600

カート