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January 1967

Studies on Amino Acid Metabolism in Citrullinuria

Author Affiliations

From the departments of biochemistry and pediatrics, University of Western Ontario, Faculty of Medicine, Health Sciences Centre, London, Ontario, Canada. Dr. Mohyuddin is now at the Montreal Children's Hospital, Montreal.

Am J Dis Child. 1967;113(1):152-156. doi:10.1001/archpedi.1967.02090160202033

CITRULLINURIA is a metabolic disorder which is characterized by the presence of large quantities of citrulline in the urine and blood and by elevation of the blood ammonia concentration particularly in the postprandial state.1 The findings to date indicate that the condition is due to partial deficiency of the liver enzyme, argininosuccinic acid synthetase, which is responsible for the utilization of citrulline in the urea cycle.2 Thus the patient maintains normal concentrations of urea and arginine in the blood, although he is incapable of completely detoxifying the ammonia arising from metabolism of a protein load. The studies described in this paper were undertaken to elucidate factors which might influence the hyperammonemia, and to establish the extent of the patient's reserve capacity for amino acid metabolism and urea synthesis following protein loads.

Material and Methods  Patient and Controls.—Details of the case history of the patient have been reported