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Pyruvate Kinase Deficiency (PK Def ) Information Sheet

 

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What is it?
Pyruvate kinase (PK) deficiency is an inherited disease occasionally encountered in the Bengal cat. It is an enzyme found within red blood cells which enables them to produce energy to survive. If this enzyme is lacking, the lifespan of the red blood cells is significantly reduced, resulting in a reduction in the number of red blood cells in the circulation (anaemia).

What signs does it cause?
The main consequence of the disease is the development of anaemia. However, since the body can quickly manufacture new red blood cells, the anaemia is usually only intermittently detectable. Most of the time the anaemia is either only mild, or occurs gradually, enabling the cat to adapt to the anaemia and not show any obvious signs. Anaemia often results in only vague signs such as lethargy and lack of appetite. However, a rapid severe life-threatening anaemia can also develop. Although PK deficiency is hereditary, the anaemia is usually mild and clinical signs may not be obvious, and thus may not be noticed until the cat is quite old.

pk def inforHow is PK deficiency inherited?
The disease is inherited as an autosomal recessive trait (see box 1). This means that a cat can be carrying the defective gene (heterozygous) without having any symptoms of the disease at all. Affected cats (homozygous) arise when two carrier cats are mated with each other. Since carrier cats remain healthy, and the anaemia of affected cats may not be detected until they are a few years of age. However, the positive side of this is that if carrier cats are identified they can still be used for breeding as long as we ensure that they are NOT mated with another carrier. Mating a carrier with a non-carrier will not produce any offspring that will suffer from PK def, and 50 per cent of the offspring will be free of the defective gene. As long as the offspring are also tested, even carriers can be bred from again as long as it is ensured that they are only mated with a non-carrier cat.

What tests are available and can carrier cats be detected?

Fortunately a reliable test does exist for PK deficiency. It comprises a DNA test that is performed on either a blood sample or cheek swab. Affected cats as well as carrier cats can be identified with the test.  Carrier cats do not show any clinical signs at all. The disease only occurs when two carrier cats are mated with each other.