(Deanship of Research - Al-Quds University, 2025-06-01) Toleen Qutifan; Sulaf Muath Daraghmeh; Mohammed Sawalmeh; Ahmed Murad Itawy; Mohammad Khalifah; Samer Abdelrazeq; Sundus Shalabi
Urea cycle disorders (UCDs) are inborn errors of nitrogen detoxification and arginine synthesis caused by defects in urea cycle enzymes. Most UCDs are autosomal recessive, increasing the likelihood of occurrence in the Palestinian population due to the high rate of consanguineous marriages. These disorders primarily affect liver and brain function. One of the rarest among them is Hyperornithinemia–Hyperammonemia–Homocitrullinuria (HHH) syndrome, an autosomal recessive condition resulting from mutations in the SLC25A15 (ORNT1) gene, which disrupts the mitochondrial ornithine transporter. Fewer than 100 cases have been reported globally.