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Treatment Of Inborn Errors Of Urea Synthesis — Activation Of Alternative Pathways Of Waste Nitrogen Synthesis And Excretion, Mark L. Batshaw , M.D., Saul Brusilow , M.D., Lewis Waber , Ph.D., M.D., Wim Blom , Ph.D., Ann Mari Brubakk , M.D., Barbara K. Burton , M.D., Howard M. Cann , M.D., Douglas Kerr , M.D., Peter Mamunes , M.D., Reuben Matalon , M.D., David Myerberg , M.D., Irwin A. Schafer , M.D.

Pediatrics Publications

Abstract

Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate. We used alternative pathways for the excretion of waste nitrogen as substitutes for the defective ureagenic pathways in 26 infants. These pathways involve synthesis and excretion of hippurate after sodium benzoate administration, and of citrulline and argininosuccinate after arginine supplementation.

The children were treated for seven to 62 months; 22 survived. The mean plasma level of ammonium (±S.E.) was 36±2 μmol per liter, and that of benzoate was 1.5±1.0 mg per deciliter. Alternative pathways accounted …