pyruvate kinase deficiency (PKDEF)

PK-Def is still reasonably unknown and is often mistaken for FIP. pyruvate kinase is an enzyme that plays an important role in energy metabolism. Breeding technique seen this is a very ‘ simple ‘ disease. Carriers (and free cats of course) do not suffer anywhere and thanks to the easy and one-off DNA test it is easy to prevent sufferers from breeding.

A DNA test can give the following results:

N/N = cat is not sick and genes are free from PK-Def

N/K = cat is not sick but bearing PK-Def on the genes

K/K = the Cat bears the PK-Def on the genes and will sooner or later show symptoms and get sick.

The phenomena in cats, as well as the age at which the disease reveals itself, show a great variation. Some cats hardly show any symptoms at all, and in other cats there are serious phenomena at an early age. Often symptoms also occur periodically.

The symptoms associated with PK-Def are those of a haemolytische Anaemie: sluggishness, tired, lack of appetite, pale and sometimes some yellowish mucous membranes. The urine may be darker in color and often the spleen is enlarged as well. Usually, however, the phenomena are rather vague and vary over time. Cats suffering from the PK-Def may still get quite old.

A real therapy for pyruvate kinase deficiency is not there. The treatment remains limited to symptom control. Sooner or later many sufferers will get to the PK-Def to a greater or lesser extent symptoms of the disease. However, the moment this happens can vary greatly, and also the severity of symptoms varies from case to case.

Breeding and PK-Def

In breeds with hereditary abnormalities, it is important to prevent the hereditary disease from spreading in subsequent generations. This means that the breeders together, and each individual, must use a policy aimed at combating the spread within the race and within the lines.

With the availability of DNA tests such as the test on PK-DEF can do that. Each animal with the defective hereditary predisposition also has good and important genes, of which it is worthwhile to preserve it for the breed. In the offspring of an important breeding that has the defective gene, we can look for worthy successors in which the positive properties of that animal are retained for the breed. Sufferers from PKdef may, if they are important for the preservation of the line, only get offspring with animals that are free from the hereditary predisposition to the abnormality. All their descendants will carry the different gene. Carriers should also be used only in combination with free animals, where all offspring must be tested before they are applied in breeding. In the group of their offspring we find the free animals with which the line is continued in the long run.

Comninatie Resultaat Conclusie
drager (N/K) x drager (N/K) krijg je 25% lijders (K/K) Die combinatie maak je dus niet.
drager (N/K) x lijder (K/K) krijg je 50% lijders (K/K) Die combinatie maak je dus niet.
lijder (K/K) x vrij (N/N) krijg je 100% dragers (N/K) Maar die zijn dus niet ziek.
drager (N/K) x vrij (N/N) krijg je 50% dragers (N/K) en 50% vrij (N/N) En die zijn dus ook niet ziek.

PK-Def and CatVision

We think it is very important that all our cats are tested on PK-DEF.

All our breeding animals are DNA tested at VHL genetics and tested negative. We only breed with cats that are PK-DEF free.
Test results are available for inspection.