A trained nutritionist should monitor the low-protein diet, which is essential in treatment. Frequent monitoring of growth and blood amino acids is imperative in order to make adjustments before essential amino acid levels fall below normal and the child becomes catabolic. Under no circumstances should a primary care provider follow a case of citrullinemia without the frequent input of a specialist. Any infant or child noted to have hyperammonemia should be considered for transfer to a medical center for further evaluation. Prenatal diagnosis is possible and available at academic centers.
Molecular diagnosis is possible, using amniocytes or chorionic villi.
Complications are chiefly neurological, including mental retardation, acute hyperammonemic coma and death. Consistent with the course of most urea cycle disorders, the degree of intellectual impairment is roughly parallel to the severity of initial presentation and frequency of subsequent hyperammonemic episodes. Subsequent hyperammonemic episodes predictably will recur with any intercurrent infection. With appropriate treatment, survival into adulthood is possible and has been documented. Genetic counseling is indicated.