Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

@article{Lindner2003TetrahydrobiopterinSI,
  title={Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.},
  author={Martin Lindner and Robert R Steinfeld and Peter Burgard and Astrid Schulze and Ertan Mayatepek and Johannes Zschocke},
  journal={Human mutation},
  year={2003},
  volume={21 4},
  pages={400}
}
We report the results of tetrahydrobiopterin (BH4) loading tests in 10 German patients with mild phenylketonuria. A significant decline of phenylalanine values after application of BH4 was observed in all but one patients. Molecular genetic analyses revealed a range of different PAH gene mutations. Re-testing of one patient previously reported as non-responsive to BH4 loading showed a moderate response with a higher dose of BH4. Nevertheless, there appear to be kinetic differences in… CONTINUE READING

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