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Genetic and Rare Diseases Information Center (GARD)

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Dihydropteridine reductase deficiency

Other Names for this Disease
  • DHPR deficiency
  • Hyperphenylalaninemia due to dihydropteridine reductase deficiency
  • Hyperphenylalaninemia, BH-4-deficient, C
  • Phenylketonuria type 2
  • QDPR deficiency
More Names
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Tests & Diagnosis

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  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

  • When an infant is newly diagnosed with PKU, the Children's PKU Network will send the parents an express pack of information to help the family get adjusted.  This packet is free of charge.  Click on the link to read more about how to obtain a packet.