A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO).
A new case of glucosephosphate isomerase deficiency with mild haemolytic anaemia was observed in a 6-year-old girl. Deficient enzyme was characterized by a profoundly decreased activity in the red cells, a normal electrophoretic phenotype, normal isoelectric point, normal optimum pH, a molecular instability and a clearly decreased Michaelis constant for fructose-6-phosphate. Propositus was double heterozygote for a 'silent gene' inherited from the mother and an abnormal enzyme from the father. Because this abnormal enzyme has undescribed characteristics, it responds to a new variant for which we propose the name GPI-MYTHO.
D000743:Anemia, Hemolytic / Q000201:enzymology* / Q000235:genetics; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D002648:Child; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005956:Glucose-6-Phosphate Isomerase / Q000097:blood; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male
D005956:Glucose-6-Phosphate Isomerase