Pyruvate Kinase Deficiency (PKDef) – Basenji

Pyruvate Kinase Deficiency (PK or PKD) is caused by a mutation in the PKLR gene. Due to this autosomal recessive mutation, an important enzyme in the pyruvate kinase pathway is affected and cannot produce enough ATP. ATP shortage leads to erythrocyte lysis, which in turn leads to severe regenerative hemolytic anemia, a blood disorder. The specific variant of the mutation analysed in this test occurs in the Basenji. Related variants have been observed in the West Highland White Terrier, Labrador Retriever, Pug, and Beagle.