N-acetylglutamate Synthase Deficiency

About the Disease
N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and carbamoyl phosphate synthetase i deficiency, hyperammonemia due to, and has symptoms including lethargy, seizures and respiratory distress. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are vomiting and infantile muscular hypotonia

Common Targets
NAGS

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