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Deficiency of glycolic enzymes in Embden-Meyerhof: causes, symptoms, diagnosis, treatment
Medical expert of the article
Last reviewed: 23.04.2024
Deficiency of enzymes glybolysis Embden-Meyerhofa - a rare autosomal recessive metabolic disease of erythrocytes, causing hemolytic anemia.
The most common form is the deficiency of pyruvate kinase. With all anomalies, hemolytic anemia occurs only in homozygotes, and the exact mechanism of hemolysis is unknown. Spherocytes are absent, but a small amount of irregular shape of the spherocytes can be determined. The determination of ATP or diphosphoglycerate can help identify a metabolic defect and localize an abnormal site for later analysis. Specific therapy for these hemolytic anemia is not, sometimes with acute hemolysis folic acid is used (1 mg per day orally). Hemolysis and anemia persist after splenectomy, although some improvement may occur, especially with pyruvate kinase deficiency.
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