[Hereditary hyperammonemia due to qualitative abnormality of hepatic and intestinal ornithine carbamoyl-transferase].
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D000596:Amino Acids / Q000097:blood / Q000652:urine; D000641:Ammonia / Q000097:blood*; D001119:Arginase / Q000378:metabolism; D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D004035:Diet Therapy; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007422:Intestines / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism*; D010375:Pedigree; D010770:Phosphotransferases / Q000378:metabolism; D012737:Sex Factors
D000596:Amino Acids; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase; D010770:Phosphotransferases; D001119:Arginase
Hyperammoniémie hérédiatire par anomalie qualitative de l'ornithine-carbamyl-transférase hépatique et intestinale.