Journal of Inherited Metabolic Disease

, Volume 15, Issue 3, pp 405–408 | Cite as

Suspected pterin-4a-carbinolamine dehydratase deficiency: Hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin

  • C. Adler
  • S. Ghisla
  • I. Rebrin
  • C. W. Heizmann
  • N. Blau
  • H. -Ch. Curtius
Short Communication

Keywords

Aromatic Amino Acid Dihydrofolate Reductase Pterin Pteridine Phenylalanine Hydroxylase 

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References

  1. Adler C, Curtius H-Ch, Datta S, Viscontini M (1990) A simple synthesis of 5-deoxy-l-[5-2H1]arabinose andl-[3′-2H1]biopterin.Helv Chim Acta 73: 1058–1063.CrossRefGoogle Scholar
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Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • C. Adler
    • 1
  • S. Ghisla
    • 2
  • I. Rebrin
    • 3
  • C. W. Heizmann
    • 1
  • N. Blau
    • 1
  • H. -Ch. Curtius
    • 1
  1. 1.Division of Clinical Chemistry, Department of PediatricsUniversity of ZurichZurichSwitzerland
  2. 2.Faculty of BiologyUniversity of KonstanzKonstanzGermany
  3. 3.Department of Human GeneticsUniversity of GreifswaldGreifswaldGermany

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