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Pyruvate Kinase deficiency

Pyruvate Kinase deficiency (PK-def) is a heritible disease that is common among Abyssinian and Somali.
The disease affects the enzyme pyruvate kinase which produces and regulates red blood cells (hemoglobin).

When in lack of the pyruvate kinase enzyme, one develop hemoglytic anemia, which is an abnormal degradation of red blood cells.
When anemic the production of hemoglobin is reduced, and the degradation process of the red blood cells is more rapid than usual due to shortage of the PK enzyme that regulate the red blood cell’s metabolism.
The red blood cell’s mission is to transport oxygen through the body and deliver it to the various cells. The oxygen connects to the hemoglobin in the bloodstream, and gets transported and distributed.
The hemoglobin is like the body’s mail man. It picks up it’s delivery of oxygen from the lungs, rushes through the body and deliver it to the body cells.
The oxygen is absolutely necessary, and is the fuel for all body cell’s energy production. Without oxygen the cells will die.

Summed up; the red blood cells decomposes quicker than the body manage to produce new ones, which have highly unfortunate consequences.

The most common sign in cats in lack of the PK enzyme is anemi. When in shortage of red blood cells the symptoms might start of mildly, than gradually worsen.
This might not be the case in all the affected cats. Some might even live with the disease without it worsen.
The disease may vary from cat to cat, but the state of anemia might vary with time.
The symptoms might be vague, but here’s a list of some that might occur:
– tiredness
– lazyness, out of breath easily
– pale mucous membranes
– throw up
– diarrhea
– weight loss
– enlarged spleen
– jaundice

When it comes to Maine Coons, the disease is passed down recessive.
That means that a cat who carries the disease only has one copy of the gene that causes the disease, and is heterozygot.
That cat will not develop the disease, but will be able to pass the one copy to its offspring.
A cat that is homozygot, that has to copies of the disease gene, will most likely develop the disease.
To prevent the occurrence of the disease, all breeders registered in NRR is obligated to test the cat’s DNA – unless the cat is free of the gene through its parents.
Cats that carries one copy of the gene is not recommended excluded from breeding, but must be mated with a partner free of the gene (N/N).

For more info I recommend reading at or this article.

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