Genetic Test
The PKLR (Pyruvate Kinase, Liver and Red Blood Cell) gene encodes the enzyme pyruvate kinase, which is essential for glycolysis—a metabolic pathway that cells use to produce energy. This genetic test targets one specific gene variant associated with pyruvate kinase deficiency.
Disease Description
Pyruvate kinase is a critical enzyme involved in the cellular production of energy. The genetic disorder resulting from the deficiency of this enzyme is known as pyruvate kinase deficiency. Red blood cells are particularly vulnerable to pyruvate kinase deficiency. Affected cats exhibit reduced numbers of red blood cells in circulation, leading to hemolytic anemia. Consequently, the capacity of the blood to carry oxygen to the body's tissues and organs becomes impaired.
