Pyruvate kinase deficiency (PK)

Clinical signs of tPyruvat kinase deficiency (PK) disease include exercise intolerance, weakness,...lisää
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.
autosomal recessive
Test duration
1-2 weeks after arrival of the sample in the lab
LABOGEN on jäsen seuraavissa organisaatioissa:
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