Pyruvate kinase deficiency / PKDef (PKLR-related) - Cat

About pyruvate kinase deficiency / PKDef

Pyruvate kinase deficiency, also known as PKDef, PK deficiency or erythrocyte pyruvate kinase deficiency, is an inherited red blood cell disorder in cats. Reduced pyruvate kinase activity makes red blood cells less stable and more likely to break down prematurely. This can result in inherited haemolytic anaemia with signs such as lethargy, pale mucous membranes, weight loss, reduced appetite, jaundice or intermittent anaemia.

This DNA test examines the PKLR variant c.693+304G>A. The condition follows autosomal recessive inheritance: cats with two copies of the variant have the highest risk of developing clinical PKDef, while carriers usually do not show clear signs but can pass the variant to offspring.

Practical value of this test

The result shows whether the cat is clear, a carrier or has two copies of the tested variant. This supports breeding selection, helps avoid high-risk pairings and can identify cats for which targeted follow-up may be useful.