Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 July 2024

Newly diagnosed with
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

flok Health (formerly National PKU News)

National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.

Don't see your organization here. Let us know here.

Clinical Trials

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