acute neonatal citrullinemia type I
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.
MONDO:0008988
citrullinemia type I
is_a
MONDO:0020683
acute disease
is_a
acute neonatal citrullinemia type 1
exact
classic citrullinemia type 1
exact
classic citrullinemia type I
exact