[Immunological studies on glucosephosphate isomerase deficiency: instability and impaired synthesis of the defective enzyme (author's transl)].
The content of GPI protein in normal and GPI deficient red cells was studied by immunological methods. In normal cells almost all enzyme protein is catalytically active. In the four inherited variants with non-spherocytic hemolytic anemia studied the content of GPI protein was decreased to a variable degree. Furthermore, the catalytically active portion of GPI protein varied markedly. It can be concluded that in the pathogenesis of this hereditary disorder an increased lability as well as an impaired synthesis of the defective enzyme play a role.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000276:immunology*; D000818:Animals; D004912:Erythrocytes / Q000201:enzymology*; D005956:Glucose-6-Phosphate Isomerase / Q000096:biosynthesis; D006801:Humans; D011817:Rabbits / Q000276:immunology; D012703:Serotyping
D005956:Glucose-6-Phosphate Isomerase
Immunologische Untersuchungen zur Glucosephosphat Isomerase Defizienz: Instabilität und verminderte Synthese des defekten Enzyms