Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

@article{Spronsen2008BrainDI,
  title={Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?},
  author={Francjan J. van Spronsen and Marieke Hoeksma and Dirk-Jan Reijngoud},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={32},
  pages={46-51}
}
In phenylketonuria, mental retardation is prevented by a diet that severely restricts natural protein and is supplemented with a phenylalanine-free amino acid mixture. The result is an almost normal outcome, although some neuropsychological disturbances remain. The pathology underlying cognitive dysfunction in phenylketonuria is unknown, although it is clear that the high plasma concentrations of phenylalanine influence the blood–brain barrier transport of large neutral amino acids. The high… CONTINUE READING

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