Description: Pyruvate kinase deficiency causes hereditary hemolytic disease, which occurs not only in humans and cats but also in dogs. Pyruvate kinase is a key enzyme in anaerobic glycolysis. Lack of enzyme leads to insufficient ATP production, resulting in erythrocyte lysis or premature destruction in the spleen. Increased erythrocyte death is clinically manifested as anemia. The lifetime of red blood cells in dogs is approximately one month, in the case of PK deficiency, the lifetime of erythrocytes is only a few days. Accompanying manifestations of PK deficiency include general weakness, increased heart activity, pale mucous membranes, hepatic impairment, hepatomegaly, splenomegaly, exercise intolerance, and weight loss. The first clinical symptoms usually appear around 4 months of age. Heterozygous dogs (mutation carriers) are usually asymptomatic, even though they have half-levels of pyruvate kinase activity. Physically inactive affected individuals show a later onset of clinical symptoms. The hematological examination usually reveals high serum ferritin concentrations and severe anemia. Some dogs develop additional symptoms, e.g. severe secondary hemochromatosis, progressive myelofibrosis and osteosclerosis of the bone marrow. Since clinical symptoms may be easily interchangeable with other metabolic disorders, testing for responsible mutations in dog breeds is a good solution to make a correct diagnosis.
Inheritance: autosomal recessive
Mutation: c. 994G>A in PK-LR gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Beagle
Notes: Beagle: PK-BEAG; Labrador Retriever: PK-LABR; Pug: PK-MOPS; Cairn Terrier and West Highland White Terrier: PK-WHWT
