Suspected pterin-4a-carbinolamine dehydratase deficiency: hyperphenylalaninaemia due to inhibition of phenylalanine hydroxylase by tetrahydro-7-biopterin.
Adler
C
C
Department of Pediatrics, University of Zurich, Switzerland.
Ghisla
S
S
Rebrin
I
I
Heizmann
C W
CW
Blau
N
N
Curtius
H C
HC
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
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