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Pyruvate Kinase Deficiency (Basenji Type)

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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.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

PKLR

Variant Detected:

Deletion of C

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

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

Associated Breed(s):

Basenji,

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