title: Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.
abstract: Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different responses to standardized BH(4) loading. Our results suggest that BH(4) responsiveness in PAH deficiency is at least partly independent from PAH genotype.
authors.affiliation: Division of Metabolic and Endocrine Diseases, University-Children's Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany. martin_lindner@med.uni-heidelburg.de
authors.forename: M
authors.initials: M
authors.lastname: Lindner
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.forename: P
authors.initials: P
authors.lastname: Burgard
mesh_terms: D019943:Amino Acid Substitution; D001708:Biopterins / Q000008:administration & dosage* / Q000031:analogs & derivatives; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010649:Phenylalanine / Q000097:blood / Q000187:drug effects; D010651:Phenylalanine Hydroxylase / Q000172:deficiency / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*; D011622:Pterins / Q000652:urine
chemical_list: D011622:Pterins; D001708:Biopterins; D010649:Phenylalanine; D010651:Phenylalanine Hydroxylase