loading...| Preferred Name |
Argininosuccinic aciduria |
| Definitions |
Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. Increased amount of argininosuccinate in the urine. |
| ID |
http://purl.obolibrary.org/obo/HP_0025630 |
| comment |
Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment. |
| creator | |
| date |
2019-04-09T00:55:15Z |
| definition |
Increased amount of argininosuccinate in the urine. |
| has_obo_namespace |
human_phenotype |
| id |
HP:0025630 |
| label |
Argininosuccinic aciduria |
| notation |
HP:0025630 |
| prefLabel |
Argininosuccinic aciduria |
| treeView | |
| subClassOf |