Alternative-Pathway Therapy for Hyperammonemia

Ammonia is a toxic compound produced in the body from the catabolism of amino acids and protein. Hyperammonemia can damage muscle and brain.1 The body converts ammonia to urea in the liver by means of the urea-cycle enzymes, and the urea so generated is subsequently eliminated in the urine as nitrogenous waste. This essential process is necessary for the maintenance of health.Metabolic disorders are associated with a defect or deficiency of each of the six enzymes in the urea cycle (Figure 1). These inborn errors of metabolism disrupt the normal processing of ammonia and result in hyperammonemia. In the . . .