Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHHS)

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome, also known as hhh syndrome, is related to gyrate atrophy of choroid and retina and carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, and has symptoms including clonus, lethargy and muscle spasticity. An important gene associated with Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome is SLC25A15 (Solute Carrier Family 25 Member 15), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver and brain, and related phenotypes are hyperreflexia and cognitive impairment