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Pyruvate Kinase Deficiency (PK or PKD) is caused by a mutation in the PKLR gene.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.433del |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | PK |
Informations générales
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.
Caractéristiques cliniques
Les jeunes chiens adultes montrent des signes d’anémie hémolytique hypochrome hypochrome grave et régénérative. Les signaux cliniques sont; faiblesse intermittente, hépatosplénomégalie modérée à moins d’un an et insuffisance médullaire et hépatique à l’âge de 5 ans.
Additional Information
Les porteurs n’ont aucun signe clinique, mais ont des niveaux demi-normaux d’activité de pyruvate kinase d’érythrocyte.
Références
Pubmed ID: 7520391
Year published: 1994
Omia ID: 844
Omia variant ID: