Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria
Harald E Möller1, Josef Weglage, Ulrich Bick
1Max Planck Institute of Cognitive Neuroscience, Leipzig, Germany.
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.
Related Concept Videos
Proton (¹H) NMR: Chemical Shift
Absorption signals of all the protium nuclei in a...
Positron Emission Tomography
One of the main requirements of a PET scan is a positron-emitting radioisotope, which is produced in a cyclotron and then attached to a substance used by the part of the body being...
Inborn Errors of Metabolism
Imaging Studies II: Positron Emission Tomography and Scintigraphy
Fundamental Principles of PET
Brain Imaging
These technologies include computerized axial tomography (CAT or CT scans), positron-emission tomography (PET scans), magnetic resonance imaging (MRI), functional magnetic resonance imaging (fMRI), and Transcranial Magnetic Stimulation (TMS).
Imaging Studies IV: Magnetic Resonance Imaging


