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