title: Mental illness in mild PKU responds to biopterin.
abstract: A 25-year-old woman with mild hyperphenylalaninemia developed disabling depression and panic attacks. The mutations on the phenylalanine hydroxylase gene indicated that she might be responsive to tetrahydrobiopterin therapy. Mutation analyses were performed by the John F. Kennedy Institute in Glostrup, Denmark. The response to tetrahydrobiopterin therapy was impressive at an oral dose of 50 mg twice a day. A 25-year-old woman with mild hyperphenylalaninemia due to a PAH mutation of IVS12nt1g-->a/E390G has been treated for 1 year with BH4 therapy. A maintenance dosage of only 100 mg/day has resulted in significant improvement of depression and panic attacks, with discontinuation of psychotropic medication.
authors.affiliation: Childrens Hospital of Los Angeles, USC School of Medicine, Los Angeles, California, USA. rkoch8@earthlink.net
authors.forename: Richard
authors.initials: R
authors.lastname: Koch
authors.forename: Flemming
authors.initials: F
authors.lastname: Guttler
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
mesh_terms: D000328:Adult; D001708:Biopterins / Q000009:adverse effects* / Q000031:analogs & derivatives* / Q000627:therapeutic use; D003863:Depression / Q000139:chemically induced; D005260:Female; D006801:Humans; D001523:Mental Disorders / Q000139:chemically induced*; D009154:Mutation; D016584:Panic Disorder / Q000139:chemically induced; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000188:drug therapy* / Q000235:genetics
chemical_list: D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin