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

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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. © 2004 Elsevier B.V. All rights reserved.

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Repiso, A., Oliva, B., Vives Corrons, J. L., Carreras, J., & Climent, F. (2005). Glucose phosphate isomerase deficiency: Enzymatic and familial characterization of Arg346His mutation. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1740(3), 467–471. https://doi.org/10.1016/j.bbadis.2004.10.008

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