title: Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia.
abstract: GPI deficiency was detected in a three year old girl of Morrocan origin suffering, since birth, from hemolytic anemia. The defective GPI is very thermolabile and migrates on starch gel electrophoresis as a single band with a mobility of 96% of the normal main band. The purification of the patient's GPI resulted in a 16000-fold enriched preparation, free of any other enzyme activity. The yield was 35%. The purified enzyme was very unstable even at low temperature. The kinetic constants of the forward and backward reaction as well as the inhibitory constants of 2,3-DPG and 6-PG do not significantly differ from normal values. The biochemical properties of the patient's GPI indicate a new variant designated type Liége.
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000209:etiology*; D001530:Belgium; D002675:Child, Preschool; D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006358:Hot Temperature; D006801:Humans; D009018:Morocco / Q000208:ethnology; D011110:Polymorphism, Genetic