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

admin

Paige
Staff member
#1
Erythrocyte Pyruvate Kinase Deficiency (PK Deficiency) is an inherited hemolytic anemia caused by insufficient activity of this regulatory enzyme which results in instability and loss of red blood cells. The anemia is intermittent, the age of onset is variable and clinical signs are also variable. Symptoms of this anemia can include: severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement. This condition is inherited as an autosomal recessive.

Based on a survey of 38 breeds, the mutation responsible for PK deficiency has been found in significant frequency in Abyssinian, Bengal, Domestic Shorthair and Longhair, Egyptian Mau, La Perm, Maine Coon, Norwegian Forest, Savannah, Siberian, Singapura and Somali. Cats of these breeds are at higher risk of having PK deficiency or producing affected offspring; genetic screening for the mutation is recommended. A few breeds showed very low frequency of the mutation (less than 0.2%) and are low risk: Exotic Shorthair, Oriental Shorthair and Persian.

What this means for our breed is that there have been savannahs recently tested and found to be carriers. So far, we only know of one savannah that has the disease itself and that cat remains healthy at about 8 years old.

Carriers do not have the disease...they are carriers, meaning they can pass on the gene to offspring. Two carriers would have to be mated together in order for any of the offspring to get the disease.

N/N no copies of PK deficiency, cat is normal
N/K 1 copy of PK deficiency, cat is normal but is a carrier.
K/K 2 copies of PK deficiency, cat is or will be affected. Severity of symptoms cannot be predicted.

We wanted to bring this to your attention and talk about this upfront, since it is being talked about in the savannah community already and we would rather be open about it and try to answer any questions you may have.

Most breeders will be testing their breeding cats to ascertain whether they are carriers or clean (N/N).

If PK Deficiency was a monumental problem, we would have seen more sick cats, although in some ways, the disease may mimic FIP and therefore educating your vet about the disease is a great idea.

testing is available for PK Deficiency and is relatively inexpensive.

Please feel free to ask any and all questions here...
 
#2
Yes, as far as diseases go- this one could make me do a jig. ANY breed will and does have diseases within it- even if it's just the common issues inherent within any cat. PK Deficiency is something that we can easily get a handle on and work with/around to prevent.

Thanks for posting this, Paige! Very clear and easy to understand!
 

Sonnenblume

Site Supporter
#5
We test all of our cats via Langfords and have been using them for over 2 years now. The tests are relatively inexpensive, they send the swab kits out, as well as a return envelope and you normally have the report in approx 4 days.

PK Def seems to have gotten a lot of people in a tizz on FB for some reason??? PK Def has been around for a number of years now. I also read people saying it was more prevelent in Europe than the US? I would say that this is possibly down to testing taking place in Europe for some time now, so the results are there. Also, how many SV's are there in Europe with no US bloodlines? Answers on the back of a postage stamp :)

The disease is there, there is nothing anyone can do about it (ie it can't be treated). The only thing we can do, is test our breeding cats and manage it accordingly and be responsible breeders in the management of it.

It is good that this has been opened upto a wider audience by Paige. People need educating and not scared witless.
 

admin

Paige
Staff member
#6
We test all of our cats via Langfords and have been using them for over 2 years now. The tests are relatively inexpensive, they send the swab kits out, as well as a return envelope and you normally have the report in approx 4 days.

PK Def seems to have gotten a lot of people in a tizz on FB for some reason??? PK Def has been around for a number of years now. I also read people saying it was more prevelent in Europe than the US? I would say that this is possibly down to testing taking place in Europe for some time now, so the results are there. Also, how many SV's are there in Europe with no US bloodlines? Answers on the back of a postage stamp :)

The disease is there, there is nothing anyone can do about it (ie it can't be treated). The only thing we can do, is test our breeding cats and manage it accordingly and be responsible breeders in the management of it.

It is good that this has been opened upto a wider audience by Paige. People need educating and not scared witless.
Thanks Jo! Yes, everyone seems to be in a tizzy and I guess it has to do with the carriers coming to light...I felt that it is just better to bring it out in the open and we can deal with it that way...
 
#7
We test all of our cats via Langfords and have been using them for over 2 years now. The tests are relatively inexpensive, they send the swab kits out, as well as a return envelope and you normally have the report in approx 4 days.

PK Def seems to have gotten a lot of people in a tizz on FB for some reason??? PK Def has been around for a number of years now. I also read people saying it was more prevelent in Europe than the US? I would say that this is possibly down to testing taking place in Europe for some time now, so the results are there. Also, how many SV's are there in Europe with no US bloodlines? Answers on the back of a postage stamp :)

The disease is there, there is nothing anyone can do about it (ie it can't be treated). The only thing we can do, is test our breeding cats and manage it accordingly and be responsible breeders in the management of it.

It is good that this has been opened upto a wider audience by Paige. People need educating and not scared witless.
Actually- in regard to the question about SVs coming from the US into Europe- I have wondered if we could trace those lineages of European lines if they would all basically come from the same catteries in the United States. Within the US- all lineages are basically watered down, for lack of a better word, due to the number of US catteries that have done their own work for the breed. During the watering down process that might explain the reason why MAYBE the US has seen less PK positive cats or even carriers. If we had a lot of carriers, we would be seeing a lot of cats with the disease- period.

Edited to add: This is all guessing on my work- so I might be totally wrong. As the tests come in, maybe we'll find out we have a higher incident then Europe or equal- who knows?
 

Sonnenblume

Site Supporter
#8
PK Def is not a disease that one can 'see' as such?

If you looked at a cat that was normal, a carrier, or affected, could you tell which was which? bearing in mind that even those affected cats may live a long and healthy life and never show any signs of the PK Def.

People don't know what they have, until they test and as I said above, it is all about the correct management of your cats.

I personally talk at length with all the people who have a kitten from myself, regarding the testing we do, such as PK Def, what it means etc, as I like the new owners to know that I do all I can, to ensure their new kitty is healthy and measures have been taken to prevent any preventable health issues.

The part regarding the 'watering down' is correct, as this is relevant with the outcrosses. A lot of the outcrosses that have been used over the years do have problems with PK Def and so will be brought into the Savannah lines.

I have been testing for PK Def for over 2 years now and am suprised many people are only just acknowledging it now? As I said in my first post in the thread, people just need to be educated, do the testing and manage your cats appropriately.... and stop panicking (which is evident reading some of the posts on FB).

PK Def is there, there is nothing anyone can do about it, except test and manage it correctly.
 

admin

Paige
Staff member
#9
Jo, have you been testing because you have experience with Bengals? Just curious, since there seem to be many European breeders who have not.
 

Brigitte Cowell

Moderator
Staff member
#10
I agree, Jo, we may not know how many affected cats we have here in the US simply because many K/K (affected by the PK Deficiency) are asymptomatic or mildly symptomatic so it is missed. Cats hide their illnesses well so a mild anemia likely is just never detected.

Nevertheless, I think it good to educate about this and start getting testing results to get a picture of possibly how widespread it is here...