title: Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria.
abstract: Magnetic resonance imaging studies in patients with phenylketonuria (PKU) revealed white matter alterations that correlated to most recent blood phenylalanine (Phe) concentrations as well as to brain Phe concentrations measured by magnetic resonance spectroscopy. The clinical significance of these changes is unknown. Magnetic resonance imaging data thus have no impact on therapeutic recommendations for adolescents and adults with PKU. Kinetic investigations of patients by magnetic resonance spectroscopy showed differences in brain Phe concentrations despite similar blood Phe levels. These were influenced by interindividual variations of blood-brain barrier Phe transport constants and by variations of the individual brain Phe consumption rate. Blood-brain barrier Phe transport characteristics as well as brain Phe consumption rates thus seem to be causative factors for the individual outcome in PKU.
authors.affiliation: Max Planck Institute of Cognitive Neuroscience, Leipzig, Germany.
authors.forename: Harald E
authors.initials: HE
authors.lastname: Möller
authors.forename: Josef
authors.initials: J
authors.lastname: Weglage
authors.forename: Ulrich
authors.initials: U
authors.lastname: Bick
authors.forename: Dirk
authors.initials: D
authors.lastname: Wiedermann
authors.forename: Reinhold
authors.initials: R
authors.lastname: Feldmann
authors.forename: Kurt
authors.initials: K
authors.lastname: Ullrich
mesh_terms: D001812:Blood-Brain Barrier; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D010649:Phenylalanine / Q000378:metabolism*; D010661:Phenylketonurias / Q000378:metabolism* / Q000473:pathology
chemical_list: D010649:Phenylalanine