Hyperphenylalaninemia due to dehydratase deficiency

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Synonyms

  • Dehydratase deficiency
  • Hyperphenylalaninemia with Primapterinuria
  • Hyperphenylalaninemia, BH4-deficient, D
  • Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency
  • Pterin-4 alpha-carbinolamine dehydratase deficiency
  • Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
  • Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
  • CADH deficiency
  • PCBD deficiency

For more information, visit GARD.

National Organization for Rare Disorders