Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria.
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.
Möller
Harald E
HE
Max Planck Institute of Cognitive Neuroscience, Leipzig, Germany.
Weglage
Josef
J
Bick
Ulrich
U
Wiedermann
Dirk
D
Feldmann
Reinhold
R
Ullrich
Kurt
K
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
D010649:Phenylalanine