| H01032 | |
| H番号 | H01032 |
| 名称 | N-アセチルグルタミン酸合成酵素欠損症; NAGS欠損症 |
| 概要 | N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06010(H01032) Urea cycle |
| 病因遺伝子 | NAGS [HSA:162417] [KO:K11067] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | カルグルミン酸 [DR:D07130] |
| コメント | - |
| リンク | ICD-11: 5C50.AY ICD-10: E72.2 MeSH: C536109 OMIM: 237310 |
| 文献 | PMID:20303810 著者 Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M タイトル N-acetylglutamate synthase: structure, function and defects. 雑誌 Mol Genet Metab 100 Suppl 1:S13-9 (2010) DOI:10.1016/j.ymgme.2010.02.018 PMID:21941437 著者 Haberle J タイトル Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. 雑誌 Ther Clin Risk Manag 7:327-32 (2011) DOI:10.2147/TCRM.S12703 |