Abstract
The effectiveness of ARG therapy in preventing neonatal hyperammonemia is illustrated by the outcomes of two preterm siblings with ASA. The first case was referred at 4 days of age with lethargy, apnea, coma, and a plasma ammonia concentration of 1992 μg/dl. She received hemodialysis, lowering ammonia to 133 μg/dl, but a rapid rebound to 843 μg/dl prompted institution of ARG therapy, 4 mM/kg/d as 5% ARG-HCl. This lowered ammonia to normal concentrations for the remainder of the hospitalization, at a plasma ARG concentration of 360 μM. At 20 months she is profoundly retarded, cannot sit or stand, and functions at a 3 month level. The second case was diagnosed antenatally by the presence of ASA in amniotic fluid. A male child, delivered at 32 weeks, began receiving ARG therapy at 32 hours of age when the plasma ammonia had increased to 196 μg/dl. ARG, at the same dose, produced a plasma ARG concentration of 184 μM and successfully prevented hyperammonemia. At four months of age his neurologic examination is normal and his development is age-appropriate. Both children have been maintained on a protein-restricted diet supplemented with oral arginine and ornithine acetate, providing 2 mM/kg/d of each.
Treatment of inborn errors of the urea cycle has advanced greatly in the past decade with the advent of alternative means of waste nitrogen disposal. Early diagnosis and treatment of ASA with ARG appears to be a highly effective therapy of an otherwise severe and often lethal inborn error of metabolism.
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Donn, S., Thoene, J. EFFECTIVENESS OF EARLY ARGININE (ARG) THERAPY IN ARGININOSUCCINIC ACIDURIA (ASA). Pediatr Res 18 (Suppl 4), 319 (1984). https://doi.org/10.1203/00006450-198404001-01357
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DOI: https://doi.org/10.1203/00006450-198404001-01357