| H00849 | |
| H番号 | H00849 |
| 名称 | 脳クレアチン欠乏症候群 |
| 概要 | Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to all three disorders. CCDS1 is the creatine transporter (SLC6A8) deficiency. CCDS2 and CCDS3 are creatine biosynthesis disorders and inherited in an autosomal recessive manner. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06033 Glycine, serine and arginine metabolism |
| 病因遺伝子 | (CCDS1) SLC6A8 [HSA:6535] [KO:K05041] (CCDS2) GAMT [HSA:2593] [KO:K00542] (CCDS3) GATM [HSA:2628] [KO:K00613] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C53.4 ICD-10: E72.8 MeSH: C535598 C567192 C537622 OMIM: 300352 612736 612718 |
| 文献 | PMID:19879361 著者 Braissant O, Beard E, Torrent C, Henry H タイトル Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. 雑誌 Neurobiol Dis 37:423-33 (2010) DOI:10.1016/j.nbd.2009.10.022 PMID:20301745 著者 Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS タイトル Creatine Deficiency Syndromes 雑誌 GeneReviews (1993) PMID:11326334 (CCDS1) 著者 Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C タイトル X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. 雑誌 Am J Hum Genet 68:1497-500 (2001) DOI:10.1086/320595 PMID:8651275 (CCDS2) 著者 Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K タイトル Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. 雑誌 Am J Hum Genet 58:914-22 (1996) PMID:11555793 (CCDS3) 著者 Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G タイトル Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. 雑誌 Am J Hum Genet 69:1127-33 (2001) DOI:10.1086/323765 |