Tetrahydrobiopterin and inherited hyperphenylalaninemias.

  title={Tetrahydrobiopterin and inherited hyperphenylalaninemias.},
  author={Nenad Blau and Beat Thony and Marco Spada and Alberto Ponzone},
  journal={The Turkish journal of pediatrics},
  volume={38 1},
Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes: guanosine triphosphate cyclohydrolase 1,6-pyruvoyltetrahydropterin synthase, dihydropteridin reductase and pterin-4a-carbinolamine dehydratase. The first two enzymes are involved in the biosynthesis of tetrahydrobiopterin, the… CONTINUE READING