title: Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kure
authors.forename: D C
authors.initials: DC
authors.lastname: Hou
authors.forename: T
authors.initials: T
authors.lastname: Ohura
authors.forename: H
authors.initials: H
authors.lastname: Iwamoto
authors.forename: S
authors.initials: S
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Sugiyama
authors.forename: O
authors.initials: O
authors.lastname: Sakamoto
authors.forename: K
authors.initials: K
authors.lastname: Fujii
authors.forename: Y
authors.initials: Y
authors.lastname: Matsubara
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
mesh_terms: 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
chemical_list: D000975:Antioxidants; D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase; D004093:Dihydropteridine Reductase; C003402:sapropterin