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Searched for hyperphenylalaninemia.

7 results found on Genetics Home Reference.

  • tetrahydrobiopterin deficiency condition summary
    Found in name or synonym: hyperphenylalaninemia caused by a defect in biopterin...
    Related genes:
  • PAH gene summary
    Official name: phenylalanine hydroxylase
    Found: ...such as variant PKU or non-PKU hyperphenylalaninemia....
  • GCH1 gene summary
    Official name: GTP cyclohydrolase 1
    Related term: hyperphenylalaninemia
  • PCBD1 gene summary
    Official name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
    Related term: hyperphenylalaninemia
  • PTS gene summary
    Official name: 6-pyruvoyltetrahydropterin synthase
    Related term: hyperphenylalaninemia
  • QDPR gene summary
    Official name: quinoid dihydropteridine reductase
    Related term: hyperphenylalaninemia
  • phenylketonuria condition summary
    Found: ...such as variant PKU or non-PKU hyperphenylalaninemia. Changes in other genes may...
    Related genes:
Published: July 21, 2014