High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

@article{Bernegger2002HighFO,
  title={High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.},
  author={Caroline Bernegger and Nenad Blau},
  journal={Molecular genetics and metabolism},
  year={2002},
  volume={77 4},
  pages={304-13}
}
Tetrahydrobiopterin (BH(4))-responsive hyperphenylalaninemia (HPA) is a recently described variant of phenylalanine hydroxylase deficiency. In contrast to patients with classical phenylketonuria, these patients respond to BH(4) loading tests (20mg/kg) with decrease of plasma phenylalanine levels 4 and 8 h after administration and they can be treated with BH(4) monotherapy. We retrospectively evaluated 1,919 loading tests from 33 different countries performed in our laboratory between 1988 and… CONTINUE READING

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