Level of Awareness among Pediatricians in Palestine about Urea Cycle Disorders with A Scope on HHH Syndrome
Date
2025-06-01
Authors
Toleen Qutifan
Sulaf Muath Daraghmeh
Mohammed Sawalmeh
Ahmed Murad Itawy
Mohammad Khalifah
Samer Abdelrazeq
Sundus Shalabi
Journal Title
Journal ISSN
Volume Title
Publisher
Deanship of Research - Al-Quds University
Abstract
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.