Orphanet: Adult onset citrullinemia type I

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Adult-onset citrullinemia type I

Disease 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.


Classification level: Subtype of disorder
  • 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
  • ICD-10: E72.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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