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Pyruvate Kinase Deficiency (Beagle Type)

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Test Overview:

Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Pyruvate kinase L/R (PKLR) Chromosome 7

Variant Detected:

Base Substitution c.994G>A p.Gly332Ser

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):

Gultekin GI, et al. Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.(2012) J Vet Internal Med 26(4);935-944.

Associated Breed(s):

Beagle, Mixed Breed,

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