PK-deficiency

PK-deficiency

PK-deficiency (Pyruvat Kinase deficiency) is known from Abyssinian and Somali, and breeds with ABY/SOM in the lines. PK-def can cause anemia, sometimes serious, in other cases more intermittent. The mutation that causes PK in ABY breeds is quite recently discovered in Maine Coons also, as well as a lot of other breeds (Grahn 2012). There is research going on to see if this mutation will cause clinical disease in Maine Coons, and if so, how serious. In the meantime it is a good idea not to mate carriers, but it is also important not to select away from the mutation at this point.

NB: Do not confuse with PKD

 

PK-mangel, Pyruvat Kinase-mangel, er en kjent sykdom hos Abyssiner og beslektede raser. PK-mangel vil gi blodmangel, anemi, noen ganger alvorlig og andre tilfeller mildere og periodevis. Mutasjonen som gir PK-mangel hos ABY-rasene er også oppdaget hos Maine Coon, og en del andre raser (Grahn 2012). Det foregår forskning for å se om denne mutasjonen gir klinisk sykdom hos Maine Coon, og i så fall, i hvor alvorlig grad. I mellomtiden bør man ikke pare to bærere av mutasjonen, men det er også viktig ikke å kutte ut katter med mutasjonen fra avl.

 

Estimates from the PawPeds database that indicate that somewhere between 15-20 % of all Maine Coons are carriers of this mutation. Testing for it is very easy, and only animals with “the double gene” (homozygous positive) can be affected and become ill. As long as breeders do not breed carrier to carrier, the animals will stay healthy. All our breeding animals are tested for this mutation.

 

Estimater fra PawPeds-databasen indikerer at omkring 15-20 % av alle Maine Coon er bæere av denne mutasjonen. Å teste for den er enklet, og bare dyr med to kopier kan bli rammet og bli syke. Så lenge oppdrettere ikke parer bærere er det ingen fare for denne sykdommen. Alle våre avlskatter er testet for PK-def-mutasjonen.

Pyruvate Kinase deficiency

Affected cats can develop a number of symptoms, but the expression of this illness varies a lot.

The anemia can be intermittent, with the cat showing no symptoms at all except in shorter periods. Some cats can die early, while most live to normal age. “Symptoms of anemia are often diffuse and include exercise intolerance, weakness, pale mucosa of the gums and enlargened spleen.” (PawPeds)

 

Submit DNA test results to PawPeds!

If you have tested your Maine Coon, please send the results to the PK registrar at PawPeds to be added to the database.

 

PK-def vs PKD

We often see confusion between these two disorders. For Maine Coon PKD is not a problem, and there is no reason to DNA-test for PKD unless you have Persians back in the lines.

Vi ser ofte sammenblanding av disse to sykdommene. For Maine Coon er ikke PKD noe problem, og det fins ingen grunn til å DNA-teste for PKD med mindre det ligger Perser bak i linjene.

  • PK-def = PK-deficiency
  • PK-def is a blood disease
  • enzym problem causing anemia
  • found in ABY, SOM, OCI, SIA, OSH, MCO

 

  • PKD = Polycystic Kidney Disease
  • PKD is a kidney disease
  • kidney failure
  • found in PER, EXO and breeds related to these (BSH, SRL etc)
  • PKD1 mutation has not been seen in Maine Coon

 

Maine Coons can like all cats get kidney disease, also cysts, but this is not connected to the Persian PKD mutation that you can DNA-test.

 

Read more about PK-def

PawPeds health programme for PK-deficiency

Grahn, A. et al. 2012. “Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats.”  In: BMC Vet Res. 2012; 8: 207.

Berge, Anne M. 2013. “PK-mangel og DNA-testing” In: Aristokatt 2013-2. (In Norwegian)

 

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