Ornithine translocase deficiency

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.

Also known as: HHH syndrome, ORNT1 deficiency, hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, ornithine carrier deficiency, ornithine translocase deficiency, triple H syndrome, HHH, HHHS

5 clinical trials for this condition and its sub-types.