Phenylketonuria

Abstract

Owing to our special genetic heritage, phenylketonuria is very rare in Finland, but the situation will change as the number of immigrants from populations with a larger incidence increases. In persons with this disorder, the enzyme phenylalanine hydroxylase, which metabolizes phenylalanine to tyrosine, is not functioning normally, leading to the accumulation phenylalanine within the body. High levels of phenylalanine are toxic to the central nervous system. A newborn affected with phenylketonuria is asymptomatic but will rapidly become disabled without therapy. The leading principle of the therapy is careful limitation of phenylalanine intake.