Acute neonatal citrullinemia type I
ORPHA:247546· ICD-10 E72.2
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.
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal