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Acute neonatal citrullinemia type I
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Disease definition
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.
ORPHA:247546
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- Research project(s) (48)
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Newborn screening
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