| H00164 | |
| H number | H00164 |
| Name | Carbamoyl phosphate synthetase I deficiency |
| Description | Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia. |
| Category | Inherited metabolic disorder |
| Network | nt06010(H00164) Urea cycle |
| Gene | CPS1 [HSA:1373] [KO:K01948] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Sodium phenylbutyrate [DR:D05868] |
| Comment | - |
| Other DBs | ICD-11: 5C50.A1 ICD-10: E72.2 MeSH: D020165 OMIM: 237300 |
| Reference | PMID:17310273 AUTHORS Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T TITLE Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. JOURNAL J Hum Genet 52:349-54 (2007) DOI:10.1007/s10038-007-0122-9 PMID:9711878 AUTHORS Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo JP, Gal A TITLE Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. JOURNAL Hum Mutat 12:206-11 (1998) DOI:10.1002/(SICI)1098-1004(1998)12:3<206::AID-HUMU8>3.0.CO;2-E |