| H01096 | |
| H番号 | H01096 |
| 名称 | ピルビン酸キナーゼ異常症 |
| 概要 | Pyruvate kinase (PK) deficiency is inherited metabolic disorder caused by mutations in PKLR that encodes both L-PK (expressed in liver, renal cortex, and small intestine) and R-PK (restricted to erythrocytes). The symptoms include jaundice, enlargement of the spleen, and hemolysis, leading to anemia. One hundred fifty-eight mutations associated with non-spherocytic haemolytic anaemia and eight polymorphic sites have been so far reported in the PKLR gene. It has also been found that a specific mutation in the PKLR gene causes hereditary increase of red blood cell ATP. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06031(H01096) Citrate cycle and pyruvate metabolism |
| 病因遺伝子 | PKLR [HSA:5313] [KO:K12406] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.00 ICD-10: D55.2 OMIM: 266200 102900 |
| 文献 | PMID:17550841 著者 Zanella A, Bianchi P, Fermo E タイトル Pyruvate kinase deficiency. 雑誌 Haematologica 92:721-3 (2007) DOI:10.3324/haematol.11469 PMID:15982340 著者 Zanella A, Fermo E, Bianchi P, Valentini G タイトル Red cell pyruvate kinase deficiency: molecular and clinical aspects. 雑誌 Br J Haematol 130:11-25 (2005) DOI:10.1111/j.1365-2141.2005.05527.x PMID:9090535 著者 Beutler E, Westwood B, van Zwieten R, Roos D タイトル G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. 雑誌 Hum Mutat 9:282-5 (1997) DOI:10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z |