Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family.
In a 1-year-old German boy a GPI deficiency was found to be the cause of a chronic nonspherocytic hemolytic anemia with recurrent hemolytic crises. Because of consanguinity of the parents, the patient is true homozygote. The investigation of the biochemical properties of the deficient enzyme revealed an altered electrophoretic behavior, pronounced thermolability, an increased affinity for G6P, an increased affinity for the competitive inhibitor 6-PG, and slightly changed pH optima for both substrates. Electrophoresis after freezing and thawing the hemolysate indicates that the genetic modification of the subunit involves the mechanism of transforming the main band into the secondary bands. The properties of the new deficient GPI indicate a new variant designated GPI Augsburg.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000209:etiology* / Q000235:genetics; D003241:Consanguinity; D004586:Electrophoresis; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree