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acute neonatal citrullinemia type I

Disease Summary
Associated Targets ()

Mondo Description 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 Term and Equivalent IDs
MONDO:0016600:  acute neonatal citrullinemia type I