Abstract

We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our results were compared to a study which predicted phenylalanine hydroxylase activity based on genotype and examined its correlation with the biochemical phenotype of treated patients. Some of the intellectual phenotypes of patients in our study correlated well with the predicted activities. However, we found one family with a genotype expected to have no activity of phenylalanine hydroxylase where the patients were not severely retarded. Major differences in intellectual phenotype were found in patients with the same genotype both between unrelated subjects and within families, suggesting that there is not a simple correlation between genotype and intellectual phenotype.