Pyruvate Kinase Deficiency (PKDef) – Cat
Kodas: K754
Short description
Erythrocyte pyruvate kinase deficiency (PK deficiency) is a hereditary hemolytic anemia.
General information
Erythrocyte pyruvate kinase deficiency (PK deficiency) is a hereditary hemolytic anemia. It is caused by insufficient activity of a regulatory enzyme and results in instability and loss of red blood cells.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | PKLR |
| Chromosome | F1 |
| Mutation | c.693+304G>A |
| Organ | Cardiovascular System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PKDEF |
Clinical features
Affected cats develop anemia. The age of onset is variable. The severity of clinical signs is also variable, symptoms can include severe lethargy, weakness, weight loss, jaundice, and abdominal enlargement.
Additional information
In a study of 38 breeds the mutation is detected in significant frequency in Abyssinian, Bengal, Domestic Shorthair and Longhair, Egyptian Mau, La Perm, Maine Coon, Norwegian Forest, Savannah, Siberian, Singapura and Somali. These breeds have a higher risk of developing PK deficiency or producing affected offspring. Therefore genetic screening is recommended. A few breeds show very low mutation frequency (< 0.2%) and are therefore low risk: Exotic Shorthair, Oriental Shorthair and Persian.
References
Pubmed ID: 23110753
Year published: 2012
Omia ID: 844
Omia variant ID:
Turnaround information
- 10 working days