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Pyruvate kinase deficiency (PKD) is caused by a mutation in the PKLR gene.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Pyruvate kinase deficiency (PKD) is caused by a mutation in the PKLR gene. Due to this mutation an important enzyme in the pyruvate kinase pathway is affected and cannot produce enough ATP. ATP shortage leads to erythrocyte lysis, which leads to severe regenerative hemolytic anemia.
Clinical features
Young adult dogs show signs of severe macrocytic hypochromic regenerative hemolytic anemia. The clinical signals are; intermittent weakness, moderate hepatosplenomegaly at less than one year of age and bone marrow and liver failure by 5 years of age.
Additional information
Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity.
References
Pubmed ID: 22805166
Omia ID: 844