| H01124 | |
| H番号 | H01124 |
| 名称 | PNPO 欠損症 |
| 概要 | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with this deficiency have very low concentrations of pyridoxal 5'-phosphate (PLP), leaving exogenous pyridoxal/PLP as the only source of the active cofactor. Clinically, this disease presents with neonatal epileptic encephalopathy with severe seizures which do not respond to anticonvulsant drugs or pyridoxine but shows a dramatic response to PLP. Pathogenic mutations in PNPO gene have been identified. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | PNPO [HSA:55163] [KO:K00275] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C63.Y ICD-10: G40.8 MeSH: C566449 OMIM: 610090 |
| 文献 | PMID:18485777 著者 Khayat M, Korman SH, Frankel P, Weintraub Z, Hershckowitz S, Sheffer VF, Ben Elisha M, Wevers RA, Falik-Zaccai TC タイトル PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism. 雑誌 Mol Genet Metab 94:431-4 (2008) DOI:10.1016/j.ymgme.2008.04.008 PMID:18024216 著者 Ruiz A, Garcia-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A タイトル A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. 雑誌 Mol Genet Metab 93:216-8 (2008) DOI:10.1016/j.ymgme.2007.10.003 |