GTR Home > Conditions/Phenotypes > Dihydropteridine reductase deficiency

Summary

An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. [from NCI]

Available tests

44 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: DHPR, HDHPR, PKU2, SDR33C1, QDPR
    Summary: quinoid dihydropteridine reductase

Clinical features

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