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Adult-onset citrullinemia type I

Synonym(s) Adult-onset citrullinemia type 1
Late-onset citrullinemia type 1
Late-onset citrullinemia type I
Prevalence -
Inheritance Autosomal recessive
Age of onset Adult
  • E72.2
MeSH -
MedDRA -


Disease definition

Adult-onset citrullinemia type I is a form of citrullinemia type I (see this term) 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.

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Emergency guidelines
Clinical practice guidelines
Article for general public
Clinical genetics review
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