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Embden-Meyerhoff glycolysis enzyme deficiency: causes, symptoms, diagnosis, treatment
Medical expert of the article
Last reviewed: 07.07.2025
Embden-Meyerhof glycolytic enzyme deficiency is a rare autosomal recessive metabolic disorder of red blood cells that causes hemolytic anemia.
The most common form is pyruvate kinase deficiency. In all anomalies, hemolytic anemia occurs only in homozygotes, and the precise mechanism of hemolysis is unknown. Spherocytes are absent, but small numbers of irregularly shaped spherocytes may be seen. ATP or diphosphoglycerate assays may help identify the metabolic defect and localize the abnormal site for subsequent analysis. There is no specific therapy for these hemolytic anemias, although folate (1 mg daily orally) is sometimes used in acute hemolysis. Hemolysis and anemia persist after splenectomy, although some improvement may occur, especially in pyruvate kinase deficiency.
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