| H00183 | |
| H番号 | H00183 |
| 名称 | ホモシスチン尿症 |
| 概要 | Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06030(H00183) Methionine metabolism |
| 病因遺伝子 | CBS [HSA:875] [KO:K01697] MTRR [HSA:4552] [KO:K00597] MTHFR [HSA:4524] [KO:K25004] MTR [HSA:4548] [KO:K00548] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ベタイン [DR:D07523] |
| コメント | - |
| リンク | ICD-11: 5C50.B ICD-10: E72.1 MeSH: D006712 OMIM: 236200 236270 236250 250940 |
| 文献 | PMID:10338090 著者 Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M タイトル Cystathionine beta-synthase mutations in homocystinuria. 雑誌 Hum Mutat 13:362-75 (1999) DOI:10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K PMID:14739681 (CBS) 著者 Orendac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stockler-Ipsiroglu S, Kvasnicka J, Kozich V タイトル Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. 雑誌 J Inherit Metab Dis 26:761-73 (2003) DOI:10.1023/B:BOLI.0000009963.88420.c2 PMID:23430521 (MTRR) 著者 Palanca D, Garcia-Cazorla A, Ortiz J, Jou C, Cusi V, Sunol M, Toll T, Perez B, Ormazabal A, Fowler B, Artuch R タイトル cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. 雑誌 JIMD Rep 8:57-62 (2013) DOI:10.1007/8904_2012_161 PMID:9781030 (MTHFR) 著者 Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ タイトル Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. 雑誌 Eur J Hum Genet 6:257-65 (1998) DOI:10.1038/sj.ejhg.5200182 PMID:12068375 (MTR) 著者 Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS タイトル Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. 雑誌 Am J Hum Genet 71:143-53 (2002) DOI:10.1086/341354 |