Catalog

Adult-onset citrullinaemia type 1

No MMS code

Link to WHO Definition

Adult-onset citrullinaemia type 1 – http://id.who.int/icd/entity/429215356

Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 characterised 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.