The Spectrum of Mutations in Dihydropteridine Reductase Deficiency

  • Peter M. Smooker
  • David W. Howells
  • Irma Dianzani
  • Richard G. H. Cotton
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 338)


Dihydropteridine reductase (DHPR, EC is the enzyme required for the recycling of tetrahydrobiopterin, an essential cofactor of the three aromatic amino acid hydroxylases (1). A rare inherited disorder is due to a deficiency of this enzyme, resulting in hyperphenylalanemia and disorders of dopamine and serotonin metabolism. DHPR-deficiency was recognized as an inheritable disorder, distinct from PKU, in the 1960’s, and the disease state was later correlated with an absence of enzyme activity in cultured fibroblasts (2). This lack of enzymatic activity was shown in some cases to be due to an absence of protein.


Protease Digestion Serotonin Metabolism Dihydropteridine Reductase Conserve Glycine Residue Amino Acid Reference 
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Copyright information

© Springer Science+Business Media New York 1993

Authors and Affiliations

  • Peter M. Smooker
    • 1
  • David W. Howells
    • 1
  • Irma Dianzani
    • 1
  • Richard G. H. Cotton
    • 1
  1. 1.Murdoch Institute for Research into Birth DefectsParkvilleAustralia

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