| H00664 | |
| H番号 | H00664 |
| 名称 | 解糖系酵素障害による貧血 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A10.Y ICD-10: D55.2 OMIM: 235700 300653 615512 613470 222800 |
| 文献 | PMID:10699493 著者 Martinov MV, Plotnikov AG, Vitvitsky VM, Ataullakhanov FI タイトル Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia. 雑誌 Biochim Biophys Acta 1474:75-87 (2000) DOI:10.1016/S0304-4165(99)00218-4 PMID:12393545 (HK1) 著者 van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW タイトル HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. 雑誌 Blood 101:345-7 (2003) DOI:10.1182/blood-2002-06-1851 PMID:1547346 (PGK1) 著者 Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S タイトル A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. 雑誌 Blood 79:1582-5 (1992) DOI:10.1182/blood.V79.6.1582.1582 PMID:7628118 (TPI1) 著者 Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schroter W タイトル Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis. 雑誌 Clin Genet 47:175-9 (1995) DOI:10.1111/j.1399-0004.1995.tb03955.x PMID:8499925 (GPI) 著者 Walker JI, Layton DM, Bellingham AJ, Morgan MJ, Faik P タイトル DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. 雑誌 Hum Mol Genet 2:327-9 (1993) DOI:10.1093/hmg/2.3.327 PMID:15054810 (BPGM) 著者 Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF タイトル Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. 雑誌 Am J Hematol 75:205-8 (2004) DOI:10.1002/ajh.20014 |