Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia

@article{Wilson2000PhenylalanineSI,
  title={Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia},
  author={Carlene J. Wilson and K. G. Van Wyk and James V. Leonard and Peter Theodore Clayton},
  journal={Journal of Inherited Metabolic Disease},
  year={2000},
  volume={23},
  pages={677-683}
}
Tyrosinaemia types I and II are caused by enzyme deficiencies in the tyrosine catabolism pathway. Successful treatment is possible with the novel enzyme inhibitor NTBC in tyrosinaemia type I and with dietary tyrosine and phenylalanine restriction in both conditions. This is achieved with a low natural protein intake and a supplementary amino acid formula that is phenylalanine- and tyrosine-free. Patients on this regimen had been noted, periodically, to have very low plasma phenylalanine… CONTINUE READING
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