title: BH4-sensitive hyperphenylalaninemia: new case and review of literature.
abstract: We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters in cerebrospinal fluid, as well as pterines in urine were all normal. Mutation analysis revealed compound-heterozygosity for the mutations R408W and K320N. Under BH(4)-supplementation without a specific phenylalanine-reduced diet, phenylalanine-concentrations are in the therapeutic range and our patient developed normally.
authors.affiliation: Department of Paediatrics, Hanover Medical School, Hanover, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Lücke
authors.forename: Sabine
authors.initials: S
authors.lastname: Illsinger
authors.forename: Christa
authors.initials: C
authors.lastname: Aulehla-Scholz
authors.forename: Johannes
authors.initials: J
authors.lastname: Sander
authors.forename: Anibh M
authors.initials: AM
authors.lastname: Das
mesh_terms: D001708:Biopterins / Q000031:analogs & derivatives*; D006801:Humans; D007223:Infant; D008297:Male; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin