Acute Intermitent Porphyria (Domestic Short/Long Hair Type)

Acute Intermitent Porphyria (Domestic Short/Long Hair Type)

¥5,500
  • Test Overview:
    Erythrodontia is the hallmark of human congenital erythropoietic porphyria (CEP), but is also a major phenotypic feature of acute intermittent porphyria (AIP) in cats. Cats with autosomal dominant AIP presented with erythrodontia, yellow-brown urine and mild changes in erythrocytes.
  • 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
  • 遺伝子:
  • 検出された変異:
    deletion (c.107_110delACAG) and splicing alteration (c.826-1G>A)
  • Severity:
    Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
  • Mode of Inheritance:
    Autosomal Dominant
  • Research Citation(s):
    Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Sonia Clavero,a Yuri Ahuja,a David F. Bishop,a Brittany Kwait,a Mark E. Haskins,b Urs Giger,b and Robert J. Desnicka,* Vet J. 2013 Dec; 198(3): 720–722.

Acute Intermitent Porphyria (Domestic Short/Long Hair Type)

¥5,500

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