| H01003 | |
| H番号 | H01003 |
| 名称 | ジメチルグリシンデヒドロゲナーゼ欠損 |
| 概要 | Dimethylglycine dehydrogenase deficiency (DMGDHD) is a rare autosomal recessive disorder characterized by fish odor, and unusual muscle fatigue with increased serum creatine kinase. Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix enzyme involved in the metabolism of choline. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (DMGDHD) DMGDH [HSA:29958] [KO:K00315] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.7 ICD-10: E72.5 MeSH: C565278 OMIM: 605850 268900 |
| 文献 | PMID:11231903 著者 Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J タイトル Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. 雑誌 Am J Hum Genet 68:839-47 (2001) DOI:10.1086/319520 |