Orphanet: Late onset citrullinemia type I
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Late-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.

ORPHA:247573

Classification level: Subtype of disorder
  • Synonym(s):
    • Late-onset citrullinemia type 1
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E72.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Greek (2012, pdf)

Detailed information

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FSMR : produced/endorsed by FSMR(s)

Additional information

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