Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.
Kure
S
S
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
Hou
D C
DC
Ohura
T
T
Iwamoto
H
H
Suzuki
S
S
Sugiyama
N
N
Sakamoto
O
O
Fujii
K
K
Matsubara
Y
Y
Narisawa
K
K
D000284:Administration, Oral; D000293:Adolescent; D000975:Antioxidants / Q000627:therapeutic use*; D001708:Biopterins / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002648:Child; D004252:DNA Mutational Analysis; D004093:Dihydropteridine Reductase / Q000652:urine; D016903:Drug Monitoring; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood; D010651:Phenylalanine Hydroxylase / Q000172:deficiency* / Q000235:genetics; D010661:Phenylketonurias / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism
D000975:Antioxidants; D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; D004093:Dihydropteridine Reductase; C003402:sapropterin