title: Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: clinical and familial studies.
abstract: A new case of glucose phosphate isomerase deficiency associated with cogenital nonspherocytic hemolytic anemia is described in a 12-year-old girl of Spanish origin. The parents exhibited erythrocyte glucose phosphate isomerase activity between 50 and 60% of normal. The enzyme of the propositus had normal Michaelis-Menten constants both for F-6-P and G-6-P, but abnormal pH optimum and decreased heat stability at 48 degrees C. On starch-gel electrophoresis the father's enzyme was normal but the mother's showed a cathodic migrating band in addition to the normal one. The enzyme from the propositus exhibited only one band with cathodal mobility of 116% of the main band found in normal subjects. It is postulated that the propositus is double heterozygous for two abnormal alleles, and the mother contributes a mutant allele with abnormal electrophoretic mobility and thermolability at 48 degrees C whereas the father contributes an allele without enzymatic activity.
mesh_terms: D000483:Alleles; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood / Q000201:enzymology*; D001769:Blood; D001772:Blood Cell Count; D002648:Child; D004355:Drug Stability; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D014644:Genetic Variation; D005978:Glutathione / Q000097:blood; D006019:Glycolysis; D006400:Hematocrit; D006579:Heterozygote; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D009996:Osmotic Fragility; D013030:Spain
chemical_list: D005978:Glutathione