Citrullinaemia type 1 (Q88501): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A citrulinemia tipo 1 é um defeito raro, autossômico recessivo do ciclo da ureia, caracterizado clinicamente por hiperamonemia, letargia progressiva, má alimentação e vômitos na forma neonatal (citrulinemia neonatal aguda tipo 1) e por hiperamonemia variável na forma de início tardio (citrulinemia de início no adulto tipo 1). | |||
| description / en | description / en | ||
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, ). | |||
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, ). |
