Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

@article{Ponzone1993DifferentialDO,
  title={Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test},
  author={Alberto Ponzone and Ornella Guardamagna and Marco Spada and Silvio Ferraris and Riccardo Ponzone and Lucja Kierat and Nenad Blau},
  journal={European Journal of Pediatrics},
  year={1993},
  volume={152},
  pages={655-661}
}
We describe a new fully reliable method for the differential diagnosis of tetrahydrobiopterin-dependent hyperphenylalaninaemia (HPA). The method comprises the combined phenylalanine (Phe) plus tetrahydrobiopterin (BH4) oral loading test and enables the selective screening of BH4 deficiency when pterin analysis is not available or when a clear diagnosis has not been previously made. It should be performed together with the measurement of dihydropteridine reductase (DHPR) activity in blood. The… CONTINUE READING

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