| H01249 | |
| H番号 | H01249 |
| 名称 | エチルマロン酸脳症 |
| 概要 | Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent petechiae, orthostatic acrocyanosis, and death in the first years of life. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | ETHE1 [HSA:23474] [KO:K17725] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | MeSH: C535737 OMIM: 602473 |
| 文献 | PMID:14732903 著者 Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M タイトル Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 雑誌 Am J Hum Genet 74:239-52 (2004) DOI:10.1086/381653 PMID:16828325 著者 Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D, Tiranti V タイトル A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. 雑誌 Mol Genet Metab 89:395-7 (2006) DOI:10.1016/j.ymgme.2006.05.010 PMID:11916321 著者 Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S タイトル Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. 雑誌 J Inherit Metab Dis 24:870-3 (2001) DOI:10.1023/A:1013948409790 |