Study of ammonia metabolism in a patient with ornithine transcarbamylase deficiency using an 15N tracer.
Ammonia metabolism was studied in an 8-year-old girl with ornithine transcarbamylase (OTC) deficiency, using 15N-tracer. Changes in the incorporation of 15N into amino acids and urea were examined after 15NH4Cl administration. The recovery of total 15N in the urine of the patient in 3 days was 28.5% of the administered 15N whereas that of a control was 69.3%. They were mostly urea. The recovery of 15N-urea in the patient was 28.8% of the control in 1 day, 32% in 2 days and 33.3% in 3 days after the administration of 15NH4Cl. A larger amount of 15N was incorporated into glutamine (alpha-amino N) and glutamate and 15N was incorporated more rapidly into alanine, asparagine and serine in the patient than in the control. The incorporation into ornithine was less in the patient than in the control.
D000596:Amino Acids / Q000378:metabolism; D000641:Ammonia / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D009587:Nitrogen Isotopes; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014508:Urea / Q000378:metabolism
D000596:Amino Acids; D009587:Nitrogen Isotopes; D000641:Ammonia; D014508:Urea