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Pyruvate Kinase Deficiency

Genetic Test

The PKLR (Pyruvate Kinase L/R) gene encodes an enzyme that catalyzes the transfer of a phosphate group from phosphoenolpyruvate to ADP, producing pyruvate and ATP during glycolysis. Defects in this enzyme are a common cause of hemolytic anemia.
This genetic test targets a specific mutation associated with pyruvate kinase deficiency.

Disease Description

Pyruvate kinase is a vital enzyme in cellular metabolism, playing a key role in the process by which cells generate energy. A deficiency of this enzyme causes red blood cells to experience energy shortages, reducing their lifespan. This leads to pyruvate kinase deficiency, a hereditary hemolytic anemia characterized by premature destruction of red blood cells. The disease is progressive and lifelong, often accompanied by liver dysfunction.