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Pyruvate Kinase Deficiency

Overview :

In PKD, there is an functional abnormality with the enzyme, pyruvate kinase. Usually, pyruvate kinase acts as a catalyst in the glycolysis pathway, and is considered an essential component in this pathway. Glycolysis is the method by which cells produce their own energy. A problem with any of the key components in glycolysis can alter the amount of energy produced. In the red blood cells, glycolysis is the only method available to produce energy. Without the proper amount of energy, the red blood cells do not function normally. Since pyruvate kinase is one of the key components in glycolysis, when there is a problem with this enzyme in the red blood cells, there is a problem with the production of energy, causing the red blood cells not to function properly.

There are four different forms of the pyruvate kinase enzyme in the human body. These forms, called isozymes, all perform the same function but each isozyme of pyruvate kinase is structurally different and works in different tissues and organs. The four isozymes of pyruvate kinase are labeled M1, M2, L, and R. The isozyme M1 is found in the skeletal muscle and brain, isozyme M2 can be found in most fetal and adult tissues, isozyme L works in the liver, and isozyme R works in the red blood cells. In PKD, only the pyruvate kinase isozyme found in red blood cells, called PKR, is abnormal. Therefore, PKD only affects the red blood cells and does not directly affect the energy production in the other organs and tissues of the body.

In general, PKD not does appear to affect one gender more than another or be more common in certain regions. However, there are studies of an Amish group in Pennsylvania where a severe form of PKD is more common. As previously mentioned, the three mutations found in the PKLR gene have been linked to individuals of specific decents. Caucasians of northern and central European decent are more likely to have the 1529A mutations, individuals of southern European descent usually have the 1456T mutation, and individuals of Asian descent are more likely to have the 1468T mutation.

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