Anemia due to disorders of glycolytic enzymes

Definition:

Anemia due to disorders of glycolytic enzymes is a group of red cell disorders caused by inherited abnormality of glycolytic enzymes. Neurological phenotypes have been found to be associated only with specific mutations affecting TPI, PGK and, in rare cases, GPI. The symptoms of TPI deficiency are generally much more severe than those of any other glycolytic enzyme deficiency.

References:

[1]. A Pekrun, et al. Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. Clin Genet. 1995 Apr;47(4):175-9. [Content Brief]

[2]. J I Walker, et al. DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. Hum Mol Genet. 1993 Mar;2(3):327-9. [Content Brief]

[3]. James D Hoyer, et al. Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Am J Hematol. 2004 Apr;75(4):205-8. [Content Brief]

[4]. M V Martinov, et al. Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia. Biochim Biophys Acta. 2000 Mar 6;1474(1):75-87. [Content Brief]

[5]. Richard van Wijk, et al. HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. Blood. 2003 Jan 1;101(1):345-7. [Content Brief]

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