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Frequency, Causes, Inheritance, Signs as well as Symptoms, Disorders with Similar Symptoms of Phospho Glycerate Kinase Deficiency

Muralinath E., Guruprasad M., Madhavi Latha C., Sheethal U., Rajitha V., Manohar U., Srinadh G., Rohitha K.

Abstract


Phosphoglycerate kinase deficiency is a genetic disorder that influences the body's capability to disintegrate the simple sugar glucose, which is the primary energy source for most cells. Researchers have narrated two major forms of the condition. The most common form is sometimes termed as the hemolytic form. It is manifested by a condition termed as chronic hemolytic anemia, in which red blood cells are disintegrated. (undergo hemolysis) prematurely. Chronic hemolytic anemia can result in unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath as well as a rapid heart rate. In addition to intellectual disability, seizures, and stroke, some individuals with the hemolytic form also show signs of aberrant brain function.

 


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References


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