Pyruvate Kinase Deficiency

 

The Pyruvate Kinase Deficiency manifests as an anaemia more or less severe depending on the animal. A reliable DNA test, called test PKDef allows the owner to early detect his cat likely to develop the disease and allows the breeder to select breeding cats before mating them.

An inherited disease

The Pyruvate Kinase Deficiency results in the lack of the pyruvate kinase enzyme, which leads to an early destruction of red blood cells. This results in a more or less severe anaemia among individuals.

This disease affects mainly the following breeds: Abyssinian, Somali, Singapura, Bengal, Maine Coon, Siberian, Norwegian forest cat.

The symptoms observed are those of a conventional anaemia : lethargy, diarrhoea, pale mucous membranes, loss of appetite, weight loss, jaundice and eating disorders.

The age of onset varies from one individual to another.

In most cases, the animal may compensate its biologically anaemia. Moderate symptoms may occur intermittently, during a period of environmental stress (change of season...) or physiological (pregnancy, weakening...). Finally, the light cases occur during aging cat.

Few cases report a severe form from an early stage.

A frequent disease

About 23% of Bengal, 12% of Maine Coon and 10% of the Abyssinians are carriers of the genetic mutation involved in Pyruvate Kinase Deficiency.

A stud cat « carrier » of the mutation will not develop the disease (recessive disease) but transmits it to 50% of its kittens.

A Sire carrier of the mutation, used a lot for reproduction spreads the disease inside the breed 50% of its progeny and helps to increase the frequency of mutation and increase the number of affected kittens.

The Pyruvate Kinase Deficiency affects many cat breeds, the disease is quite common for the following breeds: Abyssinian, Somali, Singapura, Bengal, Maine Coon, Siberian, but can potentially affect all cat breeds.

An evitable disease thanks to a DNA test

A DNA test, called PKDef test, can detect the Pyruvate Kinase Deficiency with reliability greater than 99%.

A DNA test easy to perform

Thanks to a simple cheek swab sample, the veterinarian performs a DNA test (PKDef test) to determinate if the tested cat is clear (Normal Homozygous), carrier (Heterozygous) or affected (Mutated Homozygous) for Pyruvate Kinase Deficiency.

If the tested male is carrier, the breeder will have to be careful to mate him with a clear female to make sure to avoid the birth of affected kittens.

The veterinarian who notices an anaemia for a cat can perform the PKDef DNA test to confirm or refute the Pyruvate Kinase Deficiency. If the cat is affected, its kittens are at least carriers and a particular attention should be paid to its lineage, which probably has a greater proportion of carrier cats.

A breeder who knows the genetic status of the cat takes no risk, secures its cattery and can then select its breeding cats, adapt matings, avoid the birth of affected kittens and limit the spread of this disease in the breed.

 

ANTAGENE Laboratory