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Hyperornithinemia-hyperammonemia-homocitrullinuria

ORPHA415
Synonym(s) HHH syndrome
Triple H syndrome
Prevalence Unknown
Inheritance -
Age of onset All ages
ICD-10
  • E72.4
OMIM
UMLS
  • C0268540
MeSH -
MedDRA -

Summary

Hyperornithinemia-hyperammonemia-homocitrullinuria (triple H syndrome) is a disorder of urea cycle metabolism most commonly characterized by either a neonatal onset manifesting with lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.


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Detailed information

Emergency guidelines
  • EN (2012,pdf)
Review article
  • EN (2015)
Clinical practice guidelines
  • EN (2012)
Article for general public
  • NL (2011,pdf)
  • ES (2011,pdf)
  • FR (2011,pdf)
  • IT (2011,pdf)
  • PT (2011,pdf)
  • DE (2011,pdf)
  • EN (2011,pdf)
Clinical genetics review
  • EN (2012)
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