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Erythrocytic pyruvate kinase (PK) deficiency, first documented in Basenjis, is the most common inherited erythroenzymopathy in dogs.
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Associated Breed(s):
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Category:
Genetic Diseases
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.
Gene:
Pyruvate kinase L/R (PKLR) Chromosome 7
Variant Detected:
Base Substitution c.994G>A p.Gly332Ser
Mode of Inheritance:
Recomended Screening:
Research Citation(s):