Déficit en pyruvate kinase (PK)

Pyruvate kinase (PK) deficiency manifests as an hemolytic anemia of variable severity with a...plus
Disease
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.
Breed
Abyssin, Angora turc, Bengal, European shorthair, LaPerm Longhair, LaPerm Shorthair, Maine Coon, Mau égyptien, Norvégien, Ocicat, Savannah, Sibérien, Singapura, Somali
Heredity
autosomal recessive
Test duration
3 - 5 days (in case of sequencing 1-2 weeks)
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