Pyruvate Kinase Deficiency (PKDef) – Basenji
Kodas: H445
Short description
Pyruvate Kinase Deficiency (PK or PKD) is caused by a mutation in the PKLR gene.
General information
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.
Specifications
| Breeds | |
|---|---|
| Gene | PKLR |
| Chromosome | 7 |
| Mutation | c.433del |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PK |
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: 7520391
Year published: 1994
Omia ID: 844
Omia variant ID:
Turnaround information
- 10 working days