Pyruvate kinase deficiency (PK)

LABOKLIN Service ID: 8015

Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. In dogs the anaemia caused by this enzyme deficiency in erythrocytes is always severe. Also associated with the disease is a progressive myelofibrosis and osteosclerosis of unknown aetiology. This is, along with liver failure, the major cause of death in affected dogs. Clinical signs of the disease include exercise intolerance, weakness, heart murmur and splenomegaly.

Method	sequencing
Breed list	Basenji, Beagle, Cairn Terrier, Labrador Retriever, Pug, West Highland White Terrier
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab