| H01280 | |
| H番号 | H01280 |
| 名称 | L-2-ヒドロキシグルタル酸尿症 |
| 概要 | L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | L2HGDH [HSA:79944] [KO:K00109] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | D-2-hydroxyglutaric aciduria is described in H01225. [DS:H01225] |
| リンク | ICD-11: 5C50.E1 MeSH: C535306 OMIM: 236792 |
| 文献 | PMID:15548604 著者 Rzem R, Veiga-da-Cunha M, Noel G, Goffette S, Nassogne MC, Tabarki B, Scholler C, Marquardt T, Vikkula M, Van Schaftingen E タイトル A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 雑誌 Proc Natl Acad Sci U S A 101:16849-54 (2004) DOI:10.1073/pnas.0404840101 PMID:15385440 著者 Topcu M, Jobard F, Halliez S, Coskun T, Yalcinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J タイトル L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 雑誌 Hum Mol Genet 13:2803-11 (2004) DOI:10.1093/hmg/ddh300 PMID:16134148 著者 Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorao R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C タイトル Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. 雑誌 Hum Mutat 26:395-6 (2005) DOI:10.1002/humu.9373 |