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citrullinaemia A genetic disease affecting the formation of urea as the end‐product of protein metabolism. The defect may be mild, or so severe that affected infants become comatose and may die after a moderately high intake of protein. Treatment is usually by restriction of protein intake and feeding supplements of the amino acid arginine. Sodium benzoate may be given to increase the excretion of nitrogenous waste as hippuric acid. See also benzoic acid.