Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia.
In a 13-year-old German girl a GPI deficiency was found to be the cause of a chronic nonspherocytic hemolytic anemia with recurrent hemolytic crises. The hemolytic crises usually occurred after a feverish infection. Only once did the patient require blood transfusion during a crisis. Examination of the family indicated that the patient is doubly heterozygous for the deficiency. The investigation of the biochemical properties of the deficient enzyme revealed an altered electrophoretic migration, a pronounced thermolability, an increased affinity for G-6-P and slightly changed pH optima for both substrates. The described properties of the deficient GPI indicate that we are dealing with a new variant designated GPI-Kaiserlautern.
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D005260:Female; D005636:Fructosephosphates / Q000378:metabolism; D014644:Genetic Variation; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics*; D005958:Glucosephosphates / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007700:Kinetics
D005636:Fructosephosphates; D005958:Glucosephosphates; D005956:Glucose-6-Phosphate Isomerase