Genotype and Intellectual Phenotype in Untreated Phenylketonuria Patients

  title={Genotype and Intellectual Phenotype in Untreated Phenylketonuria Patients},
  author={Susan J Ramus and Susan M. Forrest and David D Pitt and Richard G. H. Cotton},
  journal={Pediatric Research},
Previous studies have shown that genotype correlates with biochemical phenotype in treated phenylketonuria. If there is a strong correlation between genotype and intellectual phenotype of untreated patients, it would be possible to determine which individuals would have normal intelligence without treatment. In this study, 42 families with untreated phenylketonuria were analyzed to examine whether there was an association between genotype and untreated intellectual phenotype. Previously 12 of… CONTINUE READING