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Deficiency of glucose phosphatidase activity
Last reviewed: 07.07.2025
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Glucose phosphate isomerase deficiency is the third most common cause of nonspherocytic hemolytic anemia.
The disease is widespread. Inheritance is autosomal recessive; hemolysis is localized intracellularly.
Glucose phosphate isomerase is the second key enzyme in the anaerobic glucose utilization pathway - the enzyme converts glucose-6-phosphate to fructose-6-phosphate (F-6-P).
Symptoms
In heterozygotes, the activity of glucose phosphate isomerase in erythrocytes is 40-60% of the norm, the disease is asymptomatic. In homozygotes, the enzyme activity is 14-30% of the norm, the disease occurs as hemolytic anemia. The first manifestations of the disease can be observed already in the neonatal period - pronounced jaundice, anemia, splenomegaly are noted. 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 also found in other tissues, along with hemolytic anemia, muscle hypotonia and mental retardation can be observed.
Diagnostics
The diagnosis is based on determining the activity of glucose phosphate isomerase in erythrocytes. The hereditary nature of the disease is confirmed by examining the patient's parents and relatives.
[ What tests are needed?
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