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...
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...
