title: Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden.
abstract: In two siblings, children of non-consanguineous parents, glucosephosphate isomerase (GPI) deficiency was found to be the cause of recurrent haemolytic crises. Characterization of the variant enzyme found in both individuals revealed low specific activity in erythrocytes and leucocytes, increased electrophoretic mobility and pronounced thermolability. Evaluation of the electrophoretic data allows the conclusions that these siblings are compound heterozygous carriers of GPI deficiency. The new variant was designated GPI Calden. Further investigations revealed that isolated granulocytes of both siblings show marked reduction of bactericidal activity and decreased production of superoxide anion. With rare exceptions, deficiency of this enzyme was supposed to cause congenital nonspherocytic haemolytic anaemia only. Here we report on two siblings presenting with the characteristic haemolytic anaemia and a significant decrease in granulocyte function, both presumably as the result of GPI deficiency. Our data indicate that impairment of granulocyte function might be a more general feature of severe GPI deficiency than formerly noted.
authors.affiliation: Department of Paediatrics, University of Göttingen, FRG.
authors.forename: B A
authors.initials: BA
authors.lastname: Neubauer
authors.forename: S W
authors.initials: SW
authors.lastname: Eber
authors.forename: M
authors.initials: M
authors.lastname: Lakomek
authors.forename: M
authors.initials: M
authors.lastname: Gahr
authors.forename: W
authors.initials: W
authors.lastname: Schröter
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood* / Q000201:enzymology / Q000235:genetics; D004795:Enzyme Stability; D004910:Erythrocyte Membrane / Q000032:analysis; D005260:Female; D014644:Genetic Variation; D005956:Glucose-6-Phosphate Isomerase / Q000097:blood / Q000235:genetics; D006098:Granulocytes / Q000502:physiology*; D006801:Humans; D007231:Infant, Newborn; D007700:Kinetics; D008297:Male; D008565:Membrane Proteins / Q000097:blood; D012016:Reference Values
chemical_list: D008565:Membrane Proteins; D005956:Glucose-6-Phosphate Isomerase