Anemia due to disorders of glycolytic enzymes, including:
Hexokinase (HK) deficiency;
Phosphoglycerate kinase 1 (PGK1) deficiency;
Triose-phosphate isomerase (TPI) deficiency;
Glucose phosphate isomerase (GPI) deficiency;
Bisphosphoglycerate mutase (BPGM) deficiency
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.
(TPI deficiency) Elevation of DHAP [CPD:
] level in erythrocytes.
Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI
Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia.
Biochim Biophys Acta 1474:75-87 (2000)
van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
Blood 101:345-7 (2003)
Br J Haematol 136:3-11 (2007)
Olah J, Orosz F, Puskas LG, Hackler L Jr, Horanyi M, Polgar L, Hollan S, Ovadi J
Triosephosphate isomerase deficiency: consequences of an inherited mutation at mRNA, protein and metabolic levels.
Biochem J 392:675-83 (2005)
Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
Amoxicillin-induced hemolytic anemia in a child with glucose 6-phosphate isomerase deficiency.
Ann Pharmacother 44:1327-9 (2010)
Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF
Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
Am J Hematol 75:205-8 (2004)
» Japanese version
integrated database retrieval system