State screening for metabolic disorders in newborns

Abstract

Most states have mandatory screening programs for congenital and inherited disorders of metabolism. Physicians may be unaware of their state's requirements, and compiled lists of testing requirements are generally unavailable or incomplete. All states test for congenital hypothyroidism and phenylketonuria. Some states require that newborns be tested for up to six other specific congenital and inherited disorders of metabolism. Some states base their decision to test on demographic data, but there is no uniformity in the tests.