(PKDef) or (PK Deficiency)

Erythrocyte Pyruvate Kinase Deficiency




























Pyruvate Kinase is a disorder that causes anemia due to the breakdown of red blood cells, this is caused due to a mutation of the PKLR gene. The anemia can be intermittent as well as the age of onset is random, and clinical signs are also random. The disease is inherited as an autosomal recessive trait, so only cats with two copies of the defective gene are affected. It only works like a Yin and Yang, one cannot function properly without the other.

Any carriers of a single allele are okay to breed against a clean non-carrier. No we do NOT allow kittens who are carriers to be sold back into the pool with breeding rights. If we so choose to breed the broken gene it will be done within our home or within our small circle of scientific breeders for further study in hopes we can release the line back into the gene pool clean and with out any issues.

Any kitten with a single PKDEF allele will live a normal happy life without any conflicts or issues due to this broken gene! Links are provided below with more useful and helpful information regarding this disease and the genes behind how it works.

https://www.langfordvets.co.uk/media/1715/pyruvate-kinase-deficiency.pdf

Alleles: N = Normal, K = PK deficiency

  • N/N No copies of PK deficiency mutation. (Your cat is not a carrier of this disease)

  • N/K 1 copy of PK deficiency mutation. The cat will live a normal life but carries a broken allele. This allele will be passed to kittens if breeding.

  • K/K 2 copies of PK deficiency mutation. Your feline is or will be affected and the severity of symptoms cannot be predicted. All offsprings will get PK deficiency.


Testing can be done by UCDAVIS at https://vgl.ucdavis.edu/test/pk-deficiency-cat or Optimal selection at https://optimal-selection.com/products/optimal-selection-feline.

Signs & Symptoms: Pale mucous membranes, Lethargy, Lack of appetite, Weight loss, Icterus (jaundice), Abdominal enlargement, Diarrhea

The resulting anaemia is often mild and intermittently detectable or may not become evident until the cat is older (if ever), so there is not usually cause for immediate concern. Indeed some cats never show clinical signs associated with PKDef. Signs to look out for are lethargy and inappetence. Stressful situations may cause symptoms to develop.


The only treatment available is a bone marrow transplant. This treatment is very expensive and life threatening.


Due to wanting to limit the gene pool unless the kitten is of perfect features we will not allow that kitten to be released for breeding if they are a carrier of the broken allele. We also will at this time not breed N/K to another N/K or K/K due to the treatment being so new and risky.