PKdef
Pkdef (Pyruvate Kinase Deficiency) What is PKdef? PK stands for Pyruvate Kinase. This is an enzyme that plays an important role in energy metabolism. Def stands for Deficiency, or too short. With PKdef there is therefore a deficiency of this enzyme. This in turn leads to a shortage of energy in, among other things, the red blood cells. As a result, those red blood cells no longer function properly and die prematurely. The consequence? Anemia or anemia. The cat will then get pale mucous membranes. Anemia resulting from an accelerated and increased breakdown of red blood cells is called a haemolytic anaemia. PKdef symptoms The symptoms associated with PKdef are those of a haemolytic anaemia: lethargy, tiredness, lack of appetite, pale and sometimes yellowish mucous membranes. The urine may be darker in color and often the spleen is enlarged. Usually the symptoms are rather vague and vary over time. Does this mean that a PKdef sufferer always faces a short life? No, that doesn't have to be the case. Cats suffering from PKdef can live quite old. The oldest cat diagnosed with PKdef was 14 years old. But the course of the disease can also be disappointing and then the outlook is less rosy. PKdef is not curable. Only the symptoms can be treated. Sooner or later, the effects of PKdef will become noticeable among the sufferers. The severity cannot be predicted and neither can the age at which this occurs. Bengals and PKdef The Bengal is a breed with a relatively narrow gene base. Therefore, it is not always wise to immediately exclude all Bengalis who are PKdef sufferers or carriers. That would mean that you also lose the good and important genes, while these must be preserved for the quality of the breed. Direct exclusion of PKdef sufferers from breeding irrevocably means that inbreeding problems and other hereditary diseases will arise. A precise breeding policy is the solution. Prevent and phase out the spread of PKdef within the breed and lines with well-considered combinations. Which can! And only then is as much of the diversity in the breed's gene pool as possible preserved. Testing for PKdef A cat can be tested for PKdef at a very young age. This is done with a one-time DNA test. This test gives three possible results: The cat is “free” and has two “healthy” alleles. The cat will not develop any symptoms of PKdef and cannot pass the abnormality on to the next generation. The cat is a “carrier” and has one “healthy” allele and one “defective” allele. The cat will not develop PKdef symptoms, but will pass the mutant allele on to half of his or her offspring. The cat is “affected” and thus has two defective alleles. Sooner or later the cat will develop symptoms of PKdef to a greater or lesser extent. Sufferers pass on the aberrant allele to all their offspring in the next generation. Breeding with PKdef In concrete terms, this means the following: Never do: carrier x carrier – that results in 25% sufferers. Never do: carrier x sufferer – that results in 50% sufferers. Possibly yes: sufferer x free – which results in 100% carriers – but these do not become ill. Possibly yes: carrier x free – that results in 50% carriers and 50% free. The carriers do not get sick and with the healthy animals the line can be continued without risk. This keeps the gene pool as wide as possible and keeps the breed as healthy as possible. If you want to buy a kitten as a pet, it can't hurt if this kitten is a PKdef carrier.