| H01225 | |
| H番号 | H01225 |
| 名称 | D-2ヒドロキシグルタル酸尿症 |
| 概要 | D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06031(H01225) Citrate cycle and pyruvate metabolism |
| 病因遺伝子 | (D2HGA1) D2HGDH [HSA:728294] [KO:K18204] (D2HGA2) IDH2 [HSA:3418] [KO:K00031] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C50.E1 MeSH: C535306 OMIM: 600721 613657 |
| 文献 | PMID:16601864 著者 Struys EA タイトル D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. 雑誌 J Inherit Metab Dis 29:21-9 (2006) DOI:10.1007/s10545-006-0317-9 PMID:15609246 (D2HGA1) 著者 Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C タイトル Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. 雑誌 Am J Hum Genet 76:358-60 (2005) DOI:10.1086/427890 PMID:20847235 (D2HGA2) 著者 Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS タイトル IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. 雑誌 Science 330:336 (2010) DOI:10.1126/science.1192632 |