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Phenotype: Observable signs in affected dogs may include lethargy, low exercise tolerance, and fatigue. Clinically, affected dogs present with severe anemia, increased bone density, enlarged spleen and liver as well as fibrous connective tissue replacement of bone marrow cells. Signs usually appear between 4 months and 2 years of age, and prognosis is generally poor for affected individuals, with complete liver failure typically occurring by 5 years of age.
Mode of Inheritance: Autosomal recessive
Alleles: N = Normal, K = Pyruvate kinase deficiency
Breeds appropriate for testing: Basenji
Explanation of results:
• Dogs with N/N genotype will not have pyruvate kinase deficiency and cannot transmit this pyruvate kinase deficiency allele to their offspring.
• Dogs with N/K genotype are not expected to show signs of pyruvate kinase deficiency but have half the normal level of pyruvate kinase activity, and are carriers of this allele. They may transmit this pyruvate kinase deficiency allele to 50% of their offspring. Matings between two carriers are predicted to produce 25% pyruvate kinase deficiency-affected puppies.
• Dogs with K/K genotype will have pyruvate kinase deficiency, prognosis is poor.
Basenji Health Panel
$105 per animal
Pyruvate kinase deficiency (PKDef) is a chronic, severe hemolytic anemia caused by defective production of the enzyme pyruvate kinase. Low levels of this enzyme result in premature death of red blood cells and insufficient supply of oxygen to the body’s cells. Observable signs in affected dogs may include lethargy, low exercise tolerance, and fatigue. Clinically, affected dogs present with severe anemia, increased bone density, enlarged spleen and liver as well as fibrous connective tissue replacement of bone marrow cells. Signs usually appear between 4 months and 2 years of age, and prognosis is generally poor for affected individuals, with complete liver failure typically occurring by 5 years of age.
PKDef in the Basenji is caused by a single nucleotide deletion of the Pyruvate Kinase L/R (PKLR) gene (C deletion at chr7:42267826). The mode of inheritance for this disease is autosomal recessive, which means that males and females are equally affected and that two copies of the mutation are needed to cause PKDef.
Testing recommendations: Testing for PKDef assists clinicians with diagnosis of PKDef and helps breeders identify carriers among the breeding population. Carrier dogs, those with one defective and one normal copy, show no signs of disease but have half the normal level of pyruvate kinase activity. Breeding between two carriers is not recommended because 25% of the offspring are expected to be affected and 50% are expected to be carriers of the disease.