Glucosephosphate isomerase deficiency in a Dutch family.
A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability of unknown origin was found in the erythrocytes of the propositus.
D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000201:enzymology* / Q000209:etiology; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D009426:Netherlands