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Pyruvate Kinase Deficiency (Beagle Type) Overview

Pyruvate Kinase Deficiency (Beagle Type)
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICE
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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,