Pyruvate Kinase Deficiency (PKLR)

 

Gene: PKLR

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, PKLR gene; c.693+304 G>A, intron5-6

Medical system: Blood, metabolic

Breeds: Abyssinian, American Bobtail, Bengal, Domestic Cat, Domestic Longhair, Domestic Shorthair, Egyptian Mau, European Shorthair, Highland Lynx, LaPerm, Lykoi, Maine Coon, Minuet, Munchkin, Neva Masquerade, Norwegian Forest Cat, Pixie-bob, Ragdoll, Savannah, Siberian, Singapura, Somali, Sphynx, Toyger, Turkish Angora

Age of onset of symptoms:  Variable

Pyruvate kinase deficiency is a genetic disease seen in several cat breeds.  It is characterized by a lack of the enzyme pyruvate kinase, resulting in a hemolytic anemia due to a reduced red blood cell lifespan.  Clinical signs include lethargy, weakness, weight loss, jaundice, anemia, diarrhea, pale mucous membranes, loss of appetite and poor coat condition.  Clinical signs can appear from six months to 5 years of age.  The animal’s quality of life depends on the age of onset of symptoms as well as the severity of the condition.

 

References:

OMIA link:  [0844-9685]

Anderson H, Davison S, Lytle KM, et al. (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  PLoS Genet. 16;18(6):e1009804.  [pubmed/35709088]

Kushida K, Giger U, Tsutsui T, et al. (2015) Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan. J Vet Med Science 77(6):743-746. [pubmed/25716288]

Grahn RA, Grahn JC, Penedo MC, et al. (2012) Erythrocyte pyruvate kinase deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res. 8:207. [pubmed/23110753]

Barrs VR, Giger U, Wilson B, et al. (2009) Erythrocytic pyruvate kinase deficiency and AB blood types in Australian Abyssinian and Somali cats. Australian Veterinary Journal, 87(1), 39–44. [pubmed/19178476]

Kohn B, Fumi C. (2008) Clinical course of pyruvate kinase deficiency in Abyssinian and Somali Cats. J Feline Med Surg. 10(2):145-53. [pubmed/18077199]