Phenylketonuria – Genotypes and Phenotypes

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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 phenylketonuria1 , 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 . . .