Acute neonatal citrullinemia type I
Acute neonatal citrullinemia type I
Definition
Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by 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.
Also known as acute neonatal citrullinemia type 1, classic citrullinemia type 1, classic citrullinemia type I — per MONDO