| H01190 | |
| H番号 | H01190 |
| 名称 | トランスコバラミン II 欠乏症 |
| 概要 | Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. Mutations in the TCN2 gene are known to cause. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | TCN2 [HSA:6948] [KO:K14619] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3A01.0 ICD-10: D51.2 OMIM: 275350 |
| 文献 | PMID:20352340 著者 Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S タイトル Should transcobalamin deficiency be treated aggressively? 雑誌 J Inherit Metab Dis 33:223-9 (2010) DOI:10.1007/s10545-010-9074-x PMID:19581117 著者 Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Muhl A, Fowler B, Nexo E, Bodamer OA タイトル Transcobalamin II deficiency at birth. 雑誌 Mol Genet Metab 98:285-8 (2009) DOI:10.1016/j.ymgme.2009.06.003 PMID:18956254 著者 Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA タイトル Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood. 雑誌 J Inherit Metab Dis 31 Suppl 2:S287-92 (2008) DOI:10.1007/s10545-008-0864-3 |