| H01247 | |
| H番号 | H01247 |
| 名称 | ピリドキシン依存性てんかん |
| 概要 | Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance to conventional antiepileptic treatment. Antiquitin (ATQ) deficiency is the main cause of PDE. Antiquitin is encoded by ALDH7A1 gene, and functions in the lysine degradation pathway. Its deficiency results in accumulation of alpha-aminoadipic semialdehyde (AASA), piperideine-6-carboxylate (P6C) and pipecolic acid, which serve as diagnostic markers in urine, plasma, and CSF. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06036(H01247) Lysine degradation |
| 病因遺伝子 | ALDH7A1 [HSA:501] [KO:K14085] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61.0Y ICD-10: G40.8 MeSH: C536254 OMIM: 266100 |
| 文献 | PMID:16491085 著者 Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT タイトル Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 雑誌 Nat Med 12:307-9 (2006) DOI:10.1038/nm1366 PMID:21704546 著者 Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL タイトル Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. 雑誌 Mol Genet Metab 104:48-60 (2011) DOI:10.1016/j.ymgme.2011.05.014 |