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Erythrocytic Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Erythrocytic Pyruvate Kinase Deficiency (PK Deficiency) is a disorder of the red blood cells, which can result in anaemia and abnormal bone development. It is caused by a recessive mutation to the PKLR gene. The variant analysed in this test is found in the Labrador Retriever; related variants are also found in the Basenji, West Highland White Terrier, Pug and Beagle.
Caratteristiche cliniche
Affected dogs present with severe chronic anaemia, which can include fatigue, exercise intolerance, pallor and episodes of severe weakness. Symptoms can also include abnormal hardening/solidifying of the bones (osteosclerosis).
Informazioni aggiuntive
Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity.
Riferimenti
Pubmed ID: 22805166
Omia ID: 844