title: G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.
abstract: A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.
mesh_terms: D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D003364:Costa Rica; D004592:Electrophoresis, Starch Gel; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male
chemical_list: D005954:Glucosephosphate Dehydrogenase