Pyruvate Kinase Deficiency (PKDef) – Beagle
Kodas: H455
Short description
Pyruvate kinase deficiency (PKD) is caused by a mutation in the PKLR gene.
General information
Pyruvate kinase deficiency (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.
Specifications
| Breeds | |
|---|---|
| Gene | PKLR |
| Chromosome | 7 |
| Mutation | c.994G>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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: 22805166
Year published: 2012
Omia ID: 844
Omia variant ID:
Turnaround information
- 10 working days