Baillee is from lines which are PK clear and has tested Negative for PRA
Anni is also clear for both.
What is PK Def?
Pyruvate Kinase Deficiency is a genetic illness present in some breeds of dogs and cats, especially within the Abyssinian and Somalis. PK is an important factor in the regulation of sugar in the blood stream. A deficiency manifest itself in a lack of energy production by the degradation of sugar in the red blood cells that leads to instability of the red blood cell that results in anaemia. In cats, that anaemia can be intermittent and easily misdiagnosed if testing is not done.
The clinical signs are various and variable. Some animals may develop a severe lethargy, weakness and lack of appetite and thereby lose weight. The mucus membranes will appear pale, they may also experience some abdominal enlargement due to the swelling of the spleen (splenomegaly). PK Def is an autosomal recessive inherited disease where affected animals have 2 mutated genes and carriers that are asymptomatic have one mutant gene and one normal gene.
PK Deficiency results are reported as:
| Test Result | PK deficiency status |
|---|
| N/N | no copies of PK deficiency, cat is normal |
| N/K | 1 copy of PK deficiency, cat is normal but is a carrier. |
| K/K | 2 copies of PK deficiency, cat is or will be affected. Severity of symptoms cannot be predicted. |
What is PRA?
In Abyssinian, Somali and some Ocicat breeds, an inherited late-onset blindness condition is characterized by progressive degeneration of the photoreceptors (rods and cones) in the retina. A single-nucleotide polymorphism designated "rdAc" in the CEP290 gene produces a defective protein which is associated with progressive retinal atrophy (PRA) in these breeds. Cats affected with this form of PRA have normal vision at birth, with degeneration first detected by electroretinographic exam at about seven months. By ages 3-5, affected cats are completely blind. There is no treatment available for the condition. The disease is inherited as an autosomal recessive; two copies of the mutation are present in affected cats. Carriers, cats that have one copy of the mutation, are not affected and have normal vision.
PRA results are reported as:
| Test Result | PRA Status |
|---|
| N/N | Normal, cat does not have PRA mutation* |
| N/PRA | Carrier, cat has one copy of PRA mutation. Breedings between carriers will be expected to produce 25% affected kittens. |
| PRA/PRA | Affected |
* This test only detects the mutation in the CEP290 gene known to cause PRA in Abyssinian, Somali and Ocicat breeds.