[Partial ornithine carbamyl transferase deficiency].
The author reports the case of a 8-month-old girl with a partial ornithine carbamyl transferase deficiency revealed by an acute hepatic failure. The first diagnosis was hereditary fructose intolerance, corrected after the finding of an hyperoroticuria. Despite the treatment based on hypoprotidic diet, sodium benzoate and arginine, the child presented several hyperammoniemic comas. Then, dermatological manifestations, presumably due to protein denutrition, were successfully treated with amino acids keto-analogs.
Service de génétique et maladies héréditaires du métabolisme de l'enfant, Hôpital Claude-Huriez, CHRU, Lille, France.
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Largillière
D000208:Acute Disease; D000641:Ammonia / Q000097:blood; D003128:Coma / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases / Q000209:etiology* / Q000503:physiopathology; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000641:Ammonia
Déficit partiel en ornithine carbamyl transférase.