Ornithine translocase deficiency
Ornithine translocase deficiency
Definition
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, hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, ornithine carrier deficiency, ornithine translocase deficiency, ORNT1 deficiency, triple H syndrome — per MONDO