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Diseases

Genetic and Rare Diseases Information Center (GARD)

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6-pyruvoyl-tetrahydropterin synthase deficiency


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Other Names for 6-pyruvoyl-tetrahydropterin synthase deficiency

  • Hyperphenylalanemia, BH4-deficient, A
  • Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency
  • PTS Deficiency