| H00186 | |
| H number | H00186 |
| Name | Hyperargininemia |
| Description | Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy. |
| Category | Inherited metabolic disorder |
| Network | nt06010(H00186) Urea cycle |
| Gene | ARG1 [HSA:383] [KO:K01476] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.A2 ICD-10: E72.2 MeSH: D020162 OMIM: 207800 |
| Reference | PMID:16602094 AUTHORS Scaglia F, Lee B TITLE Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency. JOURNAL Am J Med Genet C Semin Med Genet 142C:113-20 (2006) DOI:10.1002/ajmg.c.30091 PMID:15694174 AUTHORS Crombez EA, Cederbaum SD TITLE Hyperargininemia due to liver arginase deficiency. JOURNAL Mol Genet Metab 84:243-51 (2005) DOI:10.1016/j.ymgme.2004.11.004 |