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Pyruvate Kinase Deficiency (Canine) Overview

Pyruvate Kinase Deficiency (Canine)
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Category: Metabolic - Associated with the enzymes and metabolic processes of cells

Gene: PKLR

Variant Detected: Deletion of C

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If red blood cells 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. Also associated with the disease in dogs but not cats is a progressive myelofibrosis and osteosclerosis of unknown etiology and this feature, along with liver failure, is the major cause of death in affected dogs.

Research Citation(s): J Am Vet Med Assoc. 1995 Oct 1;207(7):918-21

Associated Breed(s): Basenji,  Cairn Terrier,  Labradoodle ,  Labrador Retriever,  Pug,  West Highland White Terrier ,  Australian Terrier,