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Acute neonatal citrullinemia type I
rareAcute 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.
- Identifiers
- MONDO:0016600 Orphanet:247546
- Also known as
- acute neonatal citrullinemia type 1 · classic citrullinemia type 1 · classic citrullinemia type I
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