Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00164 | Carbamoyl phosphate synthetase I deficiency | Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia. | Inherited metabolic disorder | CPS1 [HSA:1373] [KO:K01948] | |
| H01032 | N-acetylglutamate synthase deficiency | ... 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 ... | Inherited metabolic disorder | NAGS [HSA:162417] [KO:K11067] | |
| H01398 | Primary hyperammonemia (Urea cycle disorders) | 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 ... | Inherited metabolic disorder |
NAGS [HSA:162417] [KO:K11067] CPS1 [HSA:1373] [KO:K01948] OTC [HSA:5009] [KO:K00611] ASS1 [HSA:445] [KO:K01940] ASL [HSA:435] [KO:K01755] ARG1 [HSA:383] [KO:K01476] SLC25A15 [HSA:10166] [KO:K15101] SLC25A13 [HSA:10165] [KO:K15105] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |