Administration of IV arginine HCl enhances production of ornithine, which facilitates incorporation of waste nitrogen into the formation of citrulline and argininosuccinate. Diagnostic agent, pituitary function - Used in management of severe, uncompensated metabolic alkalosis. Especially in the growing infant, frequent dietary and medication adjustments are essential and should be made only with quantitative monitoring of plasma amino acids. Close attention to dietary intake and adjustments is a critical part of management and should involve the help of a highly trained nutritionist. Untreated, patients may develop cerebral edema and die.
Death can occur in some cases despite treatment.
Mental retardation is a common sequela. While intellectual impairment is the general rule, even among patients who receive excellent and timely treatment, some patients with ASA lyase deficiency reportedly have normal development. Advise parents of an affected infant that they are obligate heterozygotes, because the disease is inherited as an autosomal recessive trait. Prenatal diagnosis is available for ASA lyase deficiency, though the involved diagnostic procedures are not trivial. Even in cases where elective abortion is not an option, parents should be prepared for an affected infant in order to avoid early hyperammonemia.