Pyruvate Kinase Deficiency (Beagle Type) Overview
Pyruvate Kinase Deficiency (Beagle Type)
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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: 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: Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs.
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,