Level of Awareness among Pediatricians in Palestine about Urea Cycle Disorders with A Scope on HHH Syndrome

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dc.contributor.authorToleen Qutifan
dc.contributor.authorSulaf Muath Daraghmeh
dc.contributor.authorMohammed Sawalmeh
dc.contributor.authorAhmed Murad Itawy
dc.contributor.authorMohammad Khalifah
dc.contributor.authorSamer Abdelrazeq
dc.contributor.authorSundus Shalabi
dc.date.accessioned2025-10-04T07:58:06Z
dc.date.available2025-10-04T07:58:06Z
dc.date.issued2025-06-01
dc.description.abstractUrea 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.
dc.identifier.urihttps://dspace.alquds.edu/handle/20.500.12213/10187
dc.language.isoen
dc.publisherDeanship of Research - Al-Quds University
dc.titleLevel of Awareness among Pediatricians in Palestine about Urea Cycle Disorders with A Scope on HHH Syndrome
dc.typeArticle
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