Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation

Biochim Biophys Acta. 2005 Jun 10;1740(3):467-71. doi: 10.1016/j.bbadis.2004.10.008. Epub 2004 Oct 29.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Hemolytic, Congenital Nonspherocytic* / genetics*
  • Anemia, Hemolytic, Congenital Nonspherocytic* / metabolism
  • DNA, Complementary / genetics
  • Electrophoresis, Agar Gel
  • Erythrocytes / metabolism*
  • Female
  • Glucose-6-Phosphate Isomerase / genetics*
  • Humans
  • Models, Molecular*
  • Mutation, Missense / genetics*
  • Polymerase Chain Reaction

Substances

  • DNA, Complementary
  • Glucose-6-Phosphate Isomerase