Phenylketonuria: Epitome of Human Biochemical Genetics

Abstract

CURRENT knowledge of variants of phenylketonuria (PKU) originated largely in programs for neonatal screening and treatment. Accordingly, the structure of such programs is relevant to our discussion of the disease.^{7,16, 69 , 70} Different processes are required to achieve the goals of screening, follow-up, diagnosis, counseling, and treatment; therefore, different structures are required. Many of the reported pitfalls of PKU screening¹⁶ can be attributed to incomplete organization of integrated programs. Nowhere is the relevance and importance of structure in PKU-prevention programs more evident than in the process of diagnosis, since all cases of hyperphenylalaninemia that are identified by neonatal screening require specific and . . .