Late-onset citrullinemia type I
ORPHA:247573· ICD-10 E72.2
Definition
A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.
- Inheritance
- Autosomal recessive
- Age of onset
- Adult