loading...| Preferred Name |
精氨琥珀酸尿症 / Argininosuccinic aciduria |
| Definitions |
Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/5C50.A0 |
| broadMatch | |
| definition |
Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders. |
| hasDbXref | |
| label |
精氨琥珀酸尿症 / Argininosuccinic aciduria |
| notation |
5C50.A0 |
| prefixIRI |
ICD11CN:C50.A0 |
| prefLabel |
精氨琥珀酸尿症 / Argininosuccinic aciduria |
| translation | |
| subClassOf |