Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Synonyms: HHH syndrome | ORNT1 deficiency | Ornithine carrier deficiency | Ornithine translocase deficiency | Triple H syndrome

A rare genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy poor feeding vomiting and tachypnea or more commonly presentations in infancy childhood or adulthood with chronic neurocognitive deficits acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.