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

AuthorsC Adler, S Ghisla, I Rebrin, C W Heizmann, N Blau, H C Curtius
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 15 Issue 3 Pg. 405-8 ( 1992) ISSN: 0141-8955 [Print] United States
PMID1405480 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Biopterin
  • tetrahydroneopterin
  • 7-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydrobiopterin
  • Phenylalanine
  • Phenylalanine Hydroxylase
  • Hydro-Lyases
  • pterin-4a-carbinolamine dehydratase
Topics
  • Binding, Competitive
  • Biopterin (analogs & derivatives, metabolism, pharmacology)
  • Humans
  • Hydro-Lyases (deficiency)
  • Kinetics
  • Phenylalanine (blood)
  • Phenylalanine Hydroxylase (antagonists & inhibitors, metabolism)

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