Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000473:pathology; D000641:Ammonia / Q000097:blood*; D001119:Arginase / Q000097:blood; D001120:Arginine / Q000097:blood / Q000652:urine; D001124:Argininosuccinate Synthase / Q000172:deficiency*; D002956:Citrulline / Q000031:analogs & derivatives* / Q000097:blood / Q000652:urine; D006801:Humans; D020162:Hyperargininemia; D008607:Intellectual Disability / Q000097:blood / Q000201:enzymology; D008025:Ligases / Q000172:deficiency*; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008239:Lysine / Q000097:blood*; D008297:Male
D002956:Citrulline; D000641:Ammonia; D001120:Arginine; D001119:Arginase; D008025:Ligases; D001124:Argininosuccinate Synthase; D008239:Lysine