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.