| H00664 | |
| H number | H00664 |
| Name | Anemia due to disorders of glycolytic enzymes |
| Description | 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. |
| Category | Hematologic disease |
| Network | - |
| Gene | HK1 [HSA:3098] [KO:K00844] PGK1 [HSA:5230] [KO:K00927] TPI1 [HSA:7167] [KO:K01803] GPI [HSA:2821] [KO:K01810] BPGM [HSA:669] [KO:K01837] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A10.Y ICD-10: D55.2 OMIM: 235700 300653 615512 613470 222800 |
| Reference | PMID:10699493 AUTHORS Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI TITLE Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia. JOURNAL Biochim Biophys Acta 1474:75-87 (2000) DOI:10.1016/S0304-4165(99)00218-4 PMID:12393545 (HK1) AUTHORS van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW TITLE HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. JOURNAL Blood 101:345-7 (2003) DOI:10.1182/blood-2002-06-1851 PMID:1547346 (PGK1) AUTHORS Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S TITLE A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. JOURNAL Blood 79:1582-5 (1992) DOI:10.1182/blood.V79.6.1582.1582 PMID:7628118 (TPI1) AUTHORS Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schroter W TITLE Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. JOURNAL Clin Genet 47:175-9 (1995) DOI:10.1111/j.1399-0004.1995.tb03955.x PMID:8499925 (GPI) AUTHORS Walker JI, Layton DM, Bellingham AJ, Morgan MJ, Faik P TITLE DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. JOURNAL Hum Mol Genet 2:327-9 (1993) DOI:10.1093/hmg/2.3.327 PMID:15054810 (BPGM) AUTHORS Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF TITLE Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. JOURNAL Am J Hematol 75:205-8 (2004) DOI:10.1002/ajh.20014 |