Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria

@article{Weglage2002IndividualBB,
  title={Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria},
  author={Josef Weglage and Dirk Wiedermann and Jonas Denecke and R Feldmann and H. G. Koch and Kurt Ullrich and Harald E. M{\"o}ller},
  journal={Journal of Inherited Metabolic Disease},
  year={2002},
  volume={25},
  pages={431-436}
}
Recent studies indicate that individual blood–brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. To check these preliminary data, we investigated four pairs of siblings with classical PKU (and identical genotype) using in vivo nuclear magnetic resonance spectroscopy in the course of an oral phenylalanine load (100 mg/kg body weight). Patients' brain phenylalanine concentrations were… CONTINUE READING