title: Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies.
abstract: We previously reported the first case of red blood cell phosphoglycerate mutase (PGAM) isozyme BB deficiency due to the homozygous point mutation cDNA 690G->A, which causes a substitution of methionine 230 by isoleucine. In the present work we analyzed the changes in glycolytic intermediates caused by this mutation. With the exception of hexose phosphates, all other intermediates were decreased. In contrast, lactate levels were increased. The methionine 230 isoleucine change did not alter the mutated PGAM levels.
authors.forename: Ada
authors.initials: A
authors.lastname: Repiso
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Ramirez Bajo
authors.forename: Joan-Lluis Vives
authors.initials: JL
authors.lastname: Corrons
authors.forename: José
authors.initials: J
authors.lastname: Carreras
authors.forename: Fernando
authors.initials: F
authors.lastname: Climent
mesh_terms: D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D018076:DNA, Complementary / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007532:Isoleucine / Q000737:chemistry; D008715:Methionine / Q000737:chemistry; D009154:Mutation; D010736:Phosphoglycerate Mutase / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000737:chemistry; D017354:Point Mutation; D020033:Protein Isoforms
chemical_list: D018076:DNA, Complementary; D020033:Protein Isoforms; D007532:Isoleucine; D008715:Methionine; C024254:hexose phosphatase; D010744:Phosphoric Monoester Hydrolases; D010736:Phosphoglycerate Mutase