The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

@article{Leuzzi2006TheSO,
  title={The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency},
  author={Vincenzo Leuzzi and Cl. Carducci and Flavia Chiarotti and Cristiana Artiola and Teresa Giovanniello and Italo Antonozzi},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={29},
  pages={38-46}
}
A fall in blood phenylalanine (Phe) after tetrahydrobiopterin (BH4) administration is a common trait in phenylalanine hydroxylase (PAH, EC 1.14.16.1) deficiency (McKusick 261600). To explore the extent and biological correlates of this phenomenon we studied: (a) the spectrum of BH4 response in patients with PAH deficiency; (b) the variability of BH4 response according to the severity of the biochemical phenotype; and (c) the variability of the response to BH4 in subjects with the same genotype… CONTINUE READING