Pyruvatkinase-Defizienz (PK)
Pyruvate kinase deficiency (PK)
General description
Pyruvate kinase (PK) deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. 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.
Breeds
Abyssinian, Bengal (Leopard cat), Egyptian Mau, European Shorthair, LaPerm Longhair, LaPerm Shorthair, Maine Coon, Norwegian Forest Cat, Ocicat, Savannah, Siberian, Singapura, Somali, Turkish Angora
Order details
| Test number | 8047 |
| Abbreviation | PK |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PKLR |
| Mutation | G-A |
| Literature | OMIA:000844-9685 |
Detailed description
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.
