Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.
In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).
Weglage
J
J
Department of Pediatrics, University Hospital of Münster, Germany. weglage@uni-muenster.de
Grenzebach
M
M
von Teeffelen-Heithoff
A
A
Marquardt
T
T
Feldmann
R
R
Denecke
J
J
Gödde
D
D
Koch
H G
HG
D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000097:blood / Q000172:deficiency; D010661:Phenylketonurias / Q000188:drug therapy*; D012189:Retrospective Studies
D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; C003402:sapropterin