Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase

@article{Scriver2004HyperphenylalaninemiaDT,
  title={Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase},
  author={C. Scriver and C. Clow and P. Kaplan and A. Niederwieser},
  journal={Human Genetics},
  year={2004},
  volume={77},
  pages={168-171}
}
SummaryWe have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral (hepatic) form of this autosomal recessive phenotype. Impaired development was apparent at 3 months in one proband not treated early. Treatment with oral tetrahydropterin restored adequate… Expand

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