| H01400 | |
| H number | H01400 |
| Name | Secondary hyperammonemia |
| Description | 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. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:23628343 AUTHORS Haberle J TITLE Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. JOURNAL Arch Biochem Biophys 536:101-8 (2013) DOI:10.1016/j.abb.2013.04.009 PMID:19707277 AUTHORS Al Sibae MR, McGuire BM TITLE Current trends in the treatment of hepatic encephalopathy. JOURNAL Ther Clin Risk Manag 5:617-26 (2009) DOI:10.2147/TCRM.S4443 PMID:25895618 AUTHORS Matoori S, Leroux JC TITLE Recent advances in the treatment of hyperammonemia. JOURNAL Adv Drug Deliv Rev 90:55-68 (2015) DOI:10.1016/j.addr.2015.04.009 PMID:14085036 AUTHORS SCHROEDER HA TITLE AN AMMONIA DETOXICANT, ARGININE GLUTAMATE. JOURNAL JAMA 187:359-60 (1964) DOI:10.1001/jama.1964.03060180045014 |