Acute neonatal citrullinaemia type 1 (Q102719): Difference between revisions
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A citrulinemia neonatal aguda tipo 1 é uma forma grave de citrulinemia tipo 1 caracterizada clinicamente por hiperamonemia, letargia progressiva, má alimentação e vômitos, convulsões e possível perda de consciência, inicia dentro de alguns dias após o nascimento, com sinais variáveis de aumento da pressão intracraniana. A condição pode levar a um comprometimento neurológico significativo. | |||
| description / en | description / en | ||
Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. | |||
Revision as of 19:55, 16 August 2026
Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1802140935 |
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| English | Acute neonatal citrullinaemia type 1 |
Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 characterised clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. |
