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Deficiency of activity of glucose-phosphate isomerase
Last reviewed: 23.04.2024
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Deficiency of glucose-phosphate isomerase activity is the third most frequent cause of nonsferocytic hemolytic anemia.
The disease is spread all over the place. Inheritance is autosomal recessive; hemolysis is localized intracellularly.
Glucose-phosphate isomerase is the second key enzyme in the anaerobic pathway of glucose utilization - the enzyme converts glucose-6-phosphate to fructose-6-phosphate (F-6-F).
Symptoms
In heterozygotes, the activity of glucose-phosphate isomerase in erythrocytes is 40-60% of the norm, the disease is asymptomatic. In homozygotes, the activity of the enzyme is 14-30% of the norm, the disease proceeds in the form of hemolytic anemia. The first manifestations of the disease can be observed already in the neonatal period - marked jaundice, anemia, splenomegaly. At an older age, hemolytic anemia is expressed differently - from mild to severe. Hemolytic crises are provoked by intercurrent diseases. Since glucose-phosphate isomerase is found in other tissues, along with hemolytic anemia, muscle hypotension, delay in mental development can be observed.
Diagnostics
The diagnosis is based on the determination of the activity of glucose-phosphate isomerase in erythrocytes. The hereditary nature of the disease is confirmed by an examination of the parents and relatives of the patient.
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