Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.
The effect of tetrahydrobiopterin (BH(4)) administration was studied in three infants with BH(4) responsive phenylalanine hydroxylase (PAH) deficiency by correlating different BH(4) doses with plasma phenylalanine levels under defined protein intake.
Steinfeld
Robert
R
Department of Pediatrics, University of Hamburg, Martinistrasse 52, 20246 Hamburg, Germany.
Kohlschütter
Alfried
A
Zschocke
Johannes
J
Lindner
Martin
M
Ullrich
Kurt
K
Lukacs
Zoltan
Z
D000284:Administration, Oral; D001708:Biopterins / Q000008:administration & dosage* / Q000031:analogs & derivatives*; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010649:Phenylalanine / Q000097:blood* / Q000187:drug effects; D010661:Phenylketonurias / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D012720:Severity of Illness Index; D016896:Treatment Outcome
D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin