Pyruvate kinase deficiency
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Pyruvate kinase deficiency is an inherited disease of Abyssinian and Somali cats. Pyruvate kinase is a red blood cell enzyme important in red blood cell energy metabolism. Therefore, if this enzyme is lacking, a haemolytic anaemia can result. However, the anaemia may only be mild and intermittently detectable, or may not become evident until the cat is older. A rapid severe life-threatening anaemia can also develop.
This is an autosomal recessive mutation , meaning that two copies of the mutant gene (Homozygous) are required for the cat to be affected .
Cat breeds known to be affected by Pyruvate kinase deficiency
- Bengal – (excluding Asian Leopard cat)
Interpretation of results
Normal The cat does not have the genetic mutation causing pyruvate kinase deficiency.
Carrier The cat has one copy of the mutation. The cat will not have pyruvate kinase deficiency, but may pass the mutation to their offspring.
Affected The cat has two copies of the mutation. The cat will have pyruvate kinase deficiency.