Pyruvate kinase deficiency (PK)

LABOKLIN Service ID: 8047

Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly.

Method	TaqMan SNP assay, if necessary sequencing
Breed list	Abyssinian, Bengal (Leopard cat), Egyptian Mau, European Shorthair, LaPerm Longhair, LaPerm Shorthair, Maine Coon, Norwegian Forest Cat, Ocicat, Savannah, Siberian, Singapura, Somali, Turkish Angora
Heredity	autosomal recessive
Duration	3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks)