[Hereditary ornithine-carbamyl-transferase deficiency with qualitative enzyme abnormality. Report of a form with neonatal revelation and fatal course in a boy].
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D000596:Amino Acids / Q000032:analysis; D000641:Ammonia / Q000097:blood*; D001921:Brain / Q000201:enzymology; D002845:Chromatography; D004044:Dietary Proteins; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000201:enzymology; D007700:Kinetics; D008099:Liver / Q000201:enzymology; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000032:analysis; D010375:Pedigree
D000596:Amino Acids; D004044:Dietary Proteins; D000641:Ammonia; D009954:Ornithine Carbamoyltransferase
D'eficit hérditaire en ornithine-carbamyl-transférase avec anomalie enzymatique qualitative. Relation d'une forme à révelation néonatale et d'evolution rapidement mortelle chez un garçon.