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Pyruvate Kinase Deficiency (Beagle Type)
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,
