Acute neonatal citrullinemia type I
From BugSigDB
Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized 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.
- Aliases
- Acute neonatal citrullinemia type 1
- acute neonatal citrullinemia type 1
- acute neonatal citrullinemia type I
- Citrullinémie type 1 néonatal aigu
- Classic citrullinemia type 1
- classic citrullinemia type 1
- Classic citrullinemia type I
- classic citrullinemia type I