title: Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation.
abstract: Homozygous glucose phosphate isomerase (GPI) deficiency is one of the most important genetic disorders responsible for chronic non-spherocytic hemolytic anemia (CNSHA), a red blood cell autosomal recessive genetic disorder which causes severe metabolic alterations. In this work, we studied a patient with CNSHA due to an 82% loss of GPI activity resulting from the homozygous missense replacement in cDNA position 1040G>A, which leads to substitution of the protein residue A346H mutation. The enzyme is present in a dimeric form necessary for normal activity; the A346H mutation causes a loss of GPI capability to dimerize, which renders the enzyme more susceptible to thermolability and produces significant changes in erythrocyte metabolism.
authors.affiliation: Unitat de Bioquímica, Departament de Ciéncies Fisiológiques I, Facultat de Medicina, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Spain.
authors.forename: Ada
authors.initials: A
authors.lastname: Repiso
authors.forename: Baldomero
authors.initials: B
authors.lastname: Oliva
authors.forename: Joan-Lluis
authors.initials: JL
authors.lastname: Vives Corrons
authors.forename: Josep
authors.initials: J
authors.lastname: Carreras
authors.forename: Fernando
authors.initials: F
authors.lastname: Climent
mesh_terms: D000293:Adolescent; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics* / Q000378:metabolism; D018076:DNA, Complementary / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005956:Glucose-6-Phosphate Isomerase / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D018076:DNA, Complementary; D005956:Glucose-6-Phosphate Isomerase