Pyruvate Kinase Deficiency

Various genetic mutations can lead to decrease in the production of pyruvate kinase and this is known as pyruvate kinase deficiency. Pyruvate kinase is an enzyme that plays a strategic role in the process of glycolysis. Thus pyruvate kinase is a form of a metabolic deficiency, but a complete deficiency of the enzyme would be fatal.

The pyruvate kinase deficiency is an autosomal disorder that is mostly inherited from the affected parents. It is autosomal dominant as well as recessive, but in most common cases the deficiency is caused due to autosomal recessive condition. According to statistics it has been found that after G6PD deficiency, pyruvate kinase deficiency is the most common form of enzyme deficient hemolytic anemia.

Under normal conditions the red blood cells manufacture ATP by a process known as glucolysis. Pyruvate kinase is an enzyme that plays an important role in the process of glycolysis. But in case of a decrease in the production of the pyruvate kinase enzyme the body will be producing red blood cells with low energy. The consequences of this deficiency may also lead to rigidity in RBC’s that leads to splenic hemolysis. The individual suffering from this pyruvate kinase deficiency will show various symptoms like jaundice and an increased production of bilirubin.

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