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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 | |
| Also known as | |
| Year Published |
Informazioni generali
Pyruvate Kinase Deficiency (PK or PKD) is caused by a mutation in the PKLR gene. Due to this autosomal recessive mutation, an important enzyme in the pyruvate kinase pathway is affected and cannot produce enough ATP. ATP shortage leads to erythrocyte lysis, which in turn leads to severe regenerative hemolytic anemia, a blood disorder. The specific variant of the mutation analysed in this test occurs in the Basenji. Related variants have been observed in the West Highland White Terrier, Labrador Retriever, Pug, and Beagle.
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: 7520391
Omia ID: 844