Chapter 1 (next)
What is the incidence and prevalence of PKU and other forms of hyperphenylalaninemias, and what is known about the genetic and clinical variability?
What newborn screening strategies are available for diagnosis, what is the effectiveness of these strategies, and what cost savings are generated by screening and treatment?
What treatment regimens are used to prevent the adverse consequences of PKU? What is known about the effectiveness of these treatment and management strategies overall and with respect to variables such as time of initiation of dietary management, level of phenylalanine at various ages, methods for enhancing dietary compliance, duration of dietary management, and dietary regimen for women of childbearing age and other adults?