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.
Advise the parents to seek early medical care for the affected child with the earliest signs of infection. Counsel the parents regarding strict adherence to the prescribed medical regimen. Prenatal diagnosis theoretically is available, though not trivial. Failure to do so may result in missed diagnosis of a treatable disorder. Failure to establish a diagnosis in a proband may result in subsequent infants in the family with the same disease.