Acute neonatal citrullinaemia type 1 (Q102719)

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.