title: Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.
authors.affiliation: Department of Pediatrics, University of Zurich, Switzerland.
authors.forename: C
authors.initials: C
authors.lastname: Adler
authors.forename: S
authors.initials: S
authors.lastname: Ghisla
authors.forename: I
authors.initials: I
authors.lastname: Rebrin
authors.forename: C W
authors.initials: CW
authors.lastname: Heizmann
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: H C
authors.initials: HC
authors.lastname: Curtius
mesh_terms: D001667:Binding, Competitive; D001708:Biopterins / Q000031:analogs & derivatives* / Q000378:metabolism / Q000494:pharmacology; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007700:Kinetics; D010649:Phenylalanine / Q000097:blood*; D010651:Phenylalanine Hydroxylase / Q000037:antagonists & inhibitors* / Q000378:metabolism
chemical_list: D001708:Biopterins; C023455:tetrahydroneopterin; C076043:7-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydrobiopterin; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; D006836:Hydro-Lyases; C076392:pterin-4a-carbinolamine dehydratase