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Adult-onset citrullinemia type I

Orpha number ORPHA247573
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
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 12066005

Summary

Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (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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Detailed information

Summary information
Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2012)
Clinical genetics review
  • EN (2014)
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