A rare case of hereditary erythrocyte enzymopathy, namely 6-phosphogluconate dehydrogenase (6PGD) deficiency, was found in an Italian family. The activity of the enzyme was reduced to 35% in the propositus and her mother, but was normal in the other three members of the family. The 6PGD deficiency was associated with a variable reticulocyte count and recurrent increased unconjugated bilirubinemia without anemia in the propositus, while no clinical or hematological symptoms were evident in her mother. Increased levels of erythrocyte pyruvate kinase (PK) activity and reduced glutathione (GSH) were observed, indicating a slight decrease in mean red blood cell (RBC) age and an activation of reducing systems. The episodic hemolytic events with jaundice observed in the propositus may be the result of a defective RBC ability to counteract conditions of marked oxidative stress. In this report the importance of 6PGD estimation for a proper analysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency is also highlighted. In fact in the present study, the presence of 6PGD deficiency could be mistaken for a partial G6PD deficiency if the assay of G6PD activity was performed without correcting for 6PGD activity.

Caprari, P., Caforio, M., Cianciulli, P., Maffi, D., Pasquino, M., Tarzia, A., et al. (2001). 6-phosphogluconate dehydrogenase deficiency in an Italian family. ANNALS OF HEMATOLOGY, 80(1), 41-44.

6-phosphogluconate dehydrogenase deficiency in an Italian family

AMADORI, SERGIO;
2001-01-01

Abstract

A rare case of hereditary erythrocyte enzymopathy, namely 6-phosphogluconate dehydrogenase (6PGD) deficiency, was found in an Italian family. The activity of the enzyme was reduced to 35% in the propositus and her mother, but was normal in the other three members of the family. The 6PGD deficiency was associated with a variable reticulocyte count and recurrent increased unconjugated bilirubinemia without anemia in the propositus, while no clinical or hematological symptoms were evident in her mother. Increased levels of erythrocyte pyruvate kinase (PK) activity and reduced glutathione (GSH) were observed, indicating a slight decrease in mean red blood cell (RBC) age and an activation of reducing systems. The episodic hemolytic events with jaundice observed in the propositus may be the result of a defective RBC ability to counteract conditions of marked oxidative stress. In this report the importance of 6PGD estimation for a proper analysis of glucose-6-phosphate dehydrogenase (G6PD) deficiency is also highlighted. In fact in the present study, the presence of 6PGD deficiency could be mistaken for a partial G6PD deficiency if the assay of G6PD activity was performed without correcting for 6PGD activity.
2001
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/15 - MALATTIE DEL SANGUE
English
6-phosphogluconate dehydrogenase; 6PGD; erythrocyte enzyme deficiency; hyperbilirubinemia; hemolytic anemia
Caprari, P., Caforio, M., Cianciulli, P., Maffi, D., Pasquino, M., Tarzia, A., et al. (2001). 6-phosphogluconate dehydrogenase deficiency in an Italian family. ANNALS OF HEMATOLOGY, 80(1), 41-44.
Caprari, P; Caforio, M; Cianciulli, P; Maffi, D; Pasquino, M; Tarzia, A; Amadori, S; Salvati, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/51001
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