Management Guidelines
No consensus clinical management guidelines for arginase deficiency have been published. However, general guidelines for the management of urea cycle disorders are available . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with arginase deficiency, the following evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 2. Recommended Evaluations Following Initial Diagnosis in Individuals with Arginase Deficiency Evaluation | Comment Obtain plasma ammonia, amino acid profile, guanidinoacetate, liver function tests.1 | Consultation w/metabolic physician / biochemical geneticist Gastroenterology / nutrition / feeding team eval | • To incl eval of aspiration risk nutritional status • Consultation w/metabolic dietitian • Consider eval for gastrostomy tube placement in those unable to meet nutritional needs orally. Developmental assessment | Consider referral to developmental pediatrician. Neurologic eval | Consider referral to neurologist if spasticity is present or seizures are suspected. Musculoskeletal eval | To assess for secondary joint contractures lordosis. Consider referral to rehabilitation medicine. 1. Albumin, bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase, prothrombin time (PT), and partial thromboplastin time (PTT). Treatment of Manifestations The management of individuals with arginase deficiency should closely mirror that described in the Urea Cycle Disorders Overview, with one caveat: individuals with arginase deficiency are less prone to episodes of hyperammonemia and when present, hyperammonemia is more likely to respond to conservative management such as intravenous fluid administration. However, the individual who is comatose and encephalopathic is at high risk for severe brain damage and should be treated accordingly. Arginine supplementation is obviously contraindicated. Table 3. Routine Outpatient Management in Individuals with Arginase Deficiency
