Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase.
D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood*; D000818:Animals; D001344:Autopsy; D004796:Clinical Enzyme Tests; D046508:Culture Techniques; D005260:Female; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology* / Q000378:metabolism / Q000652:urine; D009154:Mutation; D009952:Ornithine / Q000378:metabolism; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism; D009963:Orotic Acid / Q000652:urine; D010770:Phosphotransferases / Q000378:metabolism; D051381:Rats; D013912:Threonine / Q000378:metabolism; D014508:Urea / Q000096:biosynthesis
D000596:Amino Acids; D013912:Threonine; D009963:Orotic Acid; D000641:Ammonia; D014508:Urea; D009952:Ornithine; D009954:Ornithine Carbamoyltransferase; D010770:Phosphotransferases