[Phospho-hexo-isomerase deficiency].
Hematologic, genetic and biochemical data of two patients suffering from glucosephosphate isomerase deficiency are described. In one of them a generalized deficiency could be demonstrated. The molecular instability of the deficient enzyme results in early inactivation. Its consequences for carbohydrate metabolism are exposed. Besides a non-spherocytic hemolytic anemia, a hepatic glycogenosis could be observed. Our patients are compared to litterature.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000209:etiology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002648:Child; D005260:Female; D006008:Glycogen Storage Disease / Q000209:etiology; D006019:Glycolysis; D006801:Humans; D007223:Infant; D010375:Pedigree
Le déficit en phospho-hexo-isomérase