Severe ornithine transcarbamylase deficiency. Two and a half years' survival with normal development.
The clinical course and management of a boy with severe ornithine transcarbamylase deficiency are described. In addition to treatment with sodium benzoate and amino acid keto analogues, mannitol may be useful in hyperammonaemia and nocturnal gavage feeding aids maintenance treatment.
D000596:Amino Acids / Q000627:therapeutic use; D000641:Ammonia / Q000097:blood; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D004359:Drug Therapy, Combination; D004750:Enteral Nutrition; D006801:Humans; D007231:Infant, Newborn; D007651:Keto Acids / Q000627:therapeutic use; D008297:Male; D008353:Mannitol / Q000627:therapeutic use; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000596:Amino Acids; D001565:Benzoates; D007651:Keto Acids; D008353:Mannitol; D000641:Ammonia; D019817:Benzoic Acid