Phenylketonuria – Genotypes and Phenotypes

Abstract

Phenylketonuria contributes to our acceptance of a model of disease that relates the manifestations (phenotypes) of a disease to an underlying process (pathogenesis) that has its origin in a cause (which may include a variant genotype). Our knowledge of phenylketonuria^{1 , 2} has evolved in the context of that model. A new point of departure is clearly marked by the study by Okano et al. in this issue of the Journal^,3 which correlates several mutations in the gene for phenylalanine hydroxylase with their effects on the activity of the enzyme and the severity of the associated clinical disease. The study could . . .