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Pyruvate kinase deficiency (PK or PKD) is caused by a mutation in the PKLR gene.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Pyruvate kinase deficiency (PK or 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.
Caratteristiche cliniche
I cani giovani adulti mostrano segni di grave anemia emolitica ipocromatica macrocitica rigenerativa. I segnali clinici sono; debolezza intermittente, epatosplenomegaly moderata a meno di un anno di età e insufficienza ossea e epatica entro i 5 anni di età.
Informazioni aggiuntive
Carriers have no clinical signs, but have half-normal levels of erythrocyte pyruvate kinase activity.
Riferimenti
Pubmed ID: 22805166
Omia ID: 844