| H00964 | |
| H番号 | H00964 |
| 名称 | チオプリンS-メチルトランスフェラーゼ欠損 |
| 概要 | Thiopurine S-methyltransferase deficiency (TPMT deficiency) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | TPMT [HSA:7172] [KO:K00569] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C55.0Y ICD-10: E79.8 MeSH: C536512 OMIM: 610460 |
| 文献 | PMID:20354201 著者 Ford LT, Berg JD タイトル Thiopurine S-methyltransferase (TPMT) assessment prior to starting thiopurine drug treatment; a pharmacogenomic test whose time has come. 雑誌 J Clin Pathol 63:288-95 (2010) DOI:10.1136/jcp.2009.069252 |