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PK Deficiency - What Is It and How Does it Affect Savannah Cats

Discussion in 'Savannah Cat - General Discussion' started by admin, Sep 9, 2013.

  1. Sonnenblume

    Sonnenblume Site Supporter

    Yes Paige, when it came about that PK Def was present in the BG breed, I started testing and it seemed very likely that it would be present in the SV lines, due to the outcrossing (if for no other reason).
  2. Sonnenblume

    Sonnenblume Site Supporter

    Testing & education is the only route to take (and as I said earlier, don't panic - this will achieve nothing).

    Also if a cat was presented to a vet showing the symptoms of the illness, how many would correctly diagnose the possibility of the cat having PK Def, or diagnose and treat it for something different?
  3. AundreaLea

    AundreaLea Site Supporter

    Article: Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats
    Homozygous cats that should have disease-associated presentations, such as splenomegaly, hemolytic anemia and increased osmotic fragility of erythrocytes, are not being actively reported by Bengal, Singapura and other breed owners to the veterinary community possibly owing to the fact that the disease can be episodic, mild and sub-clinical. In addition, the fact that expression of the disease phenotype is variable both in the age of onset and severity suggests that additional factors may be required to induce disease, such as stress and activity level. Never the less, the lack of presentation of sick cats is puzzling, prompting further investigation of the c.693+304G>A PK deficiency-associated SNP.

    (Full article)
    • Informative Informative x 1
  4. Brigitte Cowell

    Brigitte Cowell Moderator Staff Member


    I had a cat recently present to the vets with extreme anemia, and PK Def was definitely on the board of possible diagnoses. They didn't think her bloodwork completely supported this, and her bone marrow results excluded this but I was interested that they mentioned it.
  5. admin

    admin Paige Staff Member

    Thanks so much, Aundrea!
  6. Lori Greer

    Lori Greer Cahaba Cats

    Fertility issues both males and females may have also helped keep this in check for a while since many were placed as pets rather than breeders. Heck we used outcrosses for years as well so it's likely we saw few cases since we weren't doubling up on genes. I think it is a good thing to identify this now, while the breed is still fairly young, and we can work to eradicate the defective gene from our programs.

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