Citrullinemia, Classic (CTLN1)

Citrullinemia, Classic, also known as citrullinemia, is related to carbamoyl phosphate synthetase i deficiency, hyperammonemia due to and ornithine transcarbamylase deficiency, hyperammonemia due to, and has symptoms including ataxia, lethargy and seizures. An important gene associated with Citrullinemia, Classic is ASS1 (Argininosuccinate Synthase 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include liver and bone marrow, and related phenotypes are hyperammonemia and elevated plasma citrulline