Pyruvate Kinase Deficiency (for breeders interest)
This is a condition that is recognised in the Abyssinian, Somali and Domestic Shorthaired cat breeds to date. It is a genetic disorder that prevents the proper metabolism of the sugar in the blood, resulting in anaemia.
PK Deficiency, as it is commonly known, is an autosommal recessive genetic mutation. In simple terms, a recessive genetic trait CAN be carried. Fortunately there is a DNA test available to specifically test for this condition. A blood test or cheek swab can be taken which tests for the presence or absence of the mutant gene, each cat has two of these genes, one inherited from each parent.
The test results could be any of the following for an individual cat;
Two normal genes = Normal (or negative)
One normal gene + one mutant gene = Carrier, cat will not HAVE the condition, but could pass it on to any offspring
Two mutant genes = Cat will HAVE the condition and may become symptomatic
These test results are relevant in a breeding program with these breeds of cat, or any program which may be crossing breeds known to be affected by this disorder. It is still possible with care to use carrier cats in a breeding program. A carrier may be mated to a normal cat, which would produce some carrier offspring and some normal, but no offspring WITH the condition. Any of these offspring to be used for breeding could then be chosen with care, and mated according to their status.
The following link is worth reading if you would like to know more
● The DNA testing process and details of the condition from the University of Pennsylvania
If you would like more information on how to get your cats tested in the UK or the meaning of the results please feel free to contact us and we will help where we can
Testing our own Cats (for pet owners interest)
Both of our Abyssinian girls are PK Deficiency 'normal' (as in do not have any mutant genes). We had the DNA test done on our usual girl Maddy and her result was normal, so she can ONLY pass a normal gene to her offspring. Chino our fawn girl was the result of mating from Maddy and a 'normal' tested stud, and therefore could have ONLY inherited two normal genes.
As we plan to test any future cats brought into our breeding program, our pet kittens will NOT have the possibility of actually developing the condition, as one if not both parents will be tested normal.