Pyruvate kinase is an important enzyme found in the human body and it is strategic for the process of glycolysis. Pyruvate kinase functions as a biocatalyst as it facilitates the transfer of a phosphate group from phosphoenol pyruvate to ADP thus giving an output of pyruvate and ATP. Autosomal chromosomes contain genes that regulate production of the pyruvate kinase enzyme.
In case of a mutation or deletion, there may be several defects in the gene and this leads to a disruption in the production of pyruvate kinase enzyme and this results in pyruvate kinase deficiency. Thus as a result of this deficiency the process of glycolysis would be affected .This defect mainly affects the various human body cells that depend on the process of anaerobic glycolysis for the production of energy. Thus, in case of pyruvate enzyme deficiency there will be destruction of the red blood cells leading to hemolytic anemia.
Pyruvate kinase is also important in the process of glucogenesis and when there is a deficiency of this enzyme there will be excessive production of glucose by a process known as glucogenesis. This is a reverse of the process of glycolysis. When there is phophorylation, the production of pyruvate enzyme would be greatly inhibited and thus phosphoenolpyruvate is prevented from being converted to pyruvate. This glucose is supplied to various parts of the body through the liver.