Citrullinaemia type 1 (Q88501): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / CURIE | |||
CID11:ID_1410274578 | |||
| Property / CURIE: CID11:ID_1410274578 / rank | |||
Normal rank | |||
Revision as of 14:44, 15 August 2026
Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1410274578 |
||
| English | Citrullinaemia type 1 |
Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, ) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, ). |
Statements
CID11:ID_1410274578
0 references
