Triosephosphate isomerase deficiency: predictions and facts

Journal of Theoretical Biology
Ferenc OroszJudit Ovádi

Abstract

Deficiencies in around 20 enzymes, associated with widely different degrees of severity and complexity, have been identified for human erythrocytes. The fact that glycolysis is crucial for erythrocyte function is reflected by the large number of inherited glycolytic enzymopathies. Triosephosphate isomerase (TPI) deficiency, a rare autosomal disease, is usually associated with nonspherocytic hemolytic anemia, progressive neurologic dysfunction, and death in childhood. The two affected Hungarian brothers studied by us have less than 3% TPI activity and enormously (30-50-fold) increased dihydroxyacetone phosphate (DHAP) concentration in their erythrocytes. The well-established concept of the metabolic control theory was used to test the contribution of TPI and some related enzymes to the control of a relevant segment of the glycolytic pathway in normal and deficient cells. Deviation indices, DEJ = (delta J/delta E) E(r)/J(r), which give a good estimation of flux control coefficients using a single large change in enzyme activity, were determined from the fluxes in the absence and presence of exogeneous enzymes. We found that PFK and aldolase are the enzymes that predominantly control the flux, however, the quantitative values depe...Continue Reading

Citations

Jun 21, 2001·The Biochemical Journal·S HelfertC Clayton
Dec 27, 2011·Critical Reviews in Biomedical Engineering·Mehmet A OrmanMarianthi G Ierapetritou
Feb 3, 2000·Proceedings of the National Academy of Sciences of the United States of America·F OroszJ Ovádi
Mar 5, 2002·Nature Biotechnology·Marta CascantePaul W-N Lee
May 11, 2007·Expert Review of Molecular Diagnostics·Laura K Schnackenberg
May 22, 2019·Journal of Inherited Metabolic Disease·Joanna SegalMarkus Ralser
Jun 16, 2010·European Journal of Haematology·Ferenc OroszJudit Ovádi
Sep 12, 2000·International Journal for Parasitology·L JiménezA Landa
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Haematology·A S Schneider

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