Adult-onset citrullinemia type I
Adult-onset citrullinemia type I
Definition
Adult-onset citrullinemia type I is 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.
Also known as adult-onset citrullinemia type 1, late-onset citrullinemia type 1, late-onset citrullinemia type I — per MONDO