| H01400 | |
| H番号 | H01400 |
| 名称 | 二次性高アンモニア血症 |
| 概要 | Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, and may result in irreversible brain damage if not treated early and thoroughly. Hyperammonemia can be classified into primary or secondary hyperammonemias depending on the underlying pathophysiology. Detoxification of ammonia is mainly accomplished by the urea cycle in periportal hepatocytes. The function of the urea cycle may be affected in a secondary way in a number of different situations. For example, intermediary metabolites that accumulate due to enzymatic defects in other pathways, may inhibit the urea cycle. The most relevant group of disorders in this respect is that of organic acidemias. The urea cycle function may be impaired by substrate deficiencies assumed cause in various disorders including lysinuric protein intolerance, pyrroline-5-carboxylate synthetase deficiency, and fatty acid oxidation defects. In addition to the urea cycle, mammals require the function of glutamine synthetase to completely detoxify ammonia. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | MMUT [HSA:4594] [KO:K01847] PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] IVD [HSA:3712] [KO:K00253] ACADM [HSA:34] [KO:K00249] ETFDH [HSA:2110] [KO:K00311] ETFA [HSA:2108] [KO:K03522] ETFB [HSA:2109] [KO:K03521] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC7A7 [HSA:9056] [KO:K13867] ALDH18A1 [HSA:5832] [KO:K12657] PC [HSA:5091] [KO:K01958] OAT [HSA:4942] [KO:K00819] CA5A [HSA:763] [KO:K01672] GLUD1 [HSA:2746] [KO:K00261] TMEM70 [HSA:54968] [KO:K17966] GLUL [HSA:2752] [KO:K01915] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | アルギニングルタメート [DR:D02397] カルグルミン酸 [DR:D07130] |
| コメント | - |
| リンク | ICD-11: 5C50.A ICD-10: E72.2 MeSH: D022124 OMIM: 251000 606054 243500 201450 231680 608836 212138 222700 219150 266150 258870 615751 606762 614052 610015 |
| 文献 | PMID:23628343 著者 Haberle J タイトル Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. 雑誌 Arch Biochem Biophys 536:101-8 (2013) DOI:10.1016/j.abb.2013.04.009 PMID:19707277 著者 Al Sibae MR, McGuire BM タイトル Current trends in the treatment of hepatic encephalopathy. 雑誌 Ther Clin Risk Manag 5:617-26 (2009) DOI:10.2147/TCRM.S4443 PMID:25895618 著者 Matoori S, Leroux JC タイトル Recent advances in the treatment of hyperammonemia. 雑誌 Adv Drug Deliv Rev 90:55-68 (2015) DOI:10.1016/j.addr.2015.04.009 PMID:14085036 著者 SCHROEDER HA タイトル AN AMMONIA DETOXICANT, ARGININE GLUTAMATE. 雑誌 JAMA 187:359-60 (1964) DOI:10.1001/jama.1964.03060180045014 |