Hereditary erythrocyte glucosephosphate isomerase deficiency (A case report and GPI variant characterization)
- VernacularTitle:遗传性红细胞葡糖磷酸异构酶缺乏症一例及其变异型鉴定
- Author:
Chuanshu DU
;
Luming CHEN
- Publication Type:Journal Article
- Keywords:
Glucosephosphate isomerase;
Glucosephosphate isomerase deficiency;
Erythrocyte enzymopathy
- From:
Chinese Journal of Pathophysiology
1986;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary erythrocyte glucosephosphate isomerase (GPI) deficiency is thefourth most common cause of non-spherocytic hemolytic anemia. A case of GPI deficiencywas confirmed after screening a panel of 18 red cell enzymes and GSH. The GPI variantwas characterized by biochemical parameters including GPI activity in erythrocytes andplasma, low substrate activity, electrophoretic mobility, pH optimum, Michaelis constant(Km), thermostability, and substrate analogue (GAL-6-P) utilization rate. A new GPIvariant was found and was designated as GPI-Guangzhou.
