title: 'GPI Roma', a new glucose phosphate isomerase deficient variant: in vivo occurrence of postsynthetic modifications of the mutant enzyme.
abstract: In a 5-year-old Italian girl with severe congenital hemolytic anemia, red cell GPI deficiency was proven, and found to be due to a new variant, 'GPI Roma.' The parents are first cousins and have been proven to be heterozygous for this variant. GPI Roma was slightly unstable to heat and exhibited a slightly increased Michaelis constant for fructose-6-phosphate. A single predominant fast-migrating GPI form existed in the patient's white blood cells, while the electrophoretic pattern in the red cells was composed, in addition to this 'fast band,' of a major band migrating as normal GPI and of an additional slow band. It is shown that this phenomenon may be ascribed to postsynthetic events modifying the charge of the mutant enzyme.
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004592:Electrophoresis, Starch Gel; D005260:Female; D006580:Genetic Carrier Screening; D014644:Genetic Variation; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D005956:Glucose-6-Phosphate Isomerase