title: Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy.
abstract: Two patients with phenylketonuria are reported with white matter lesions. Diffusion magnetic resonance (MR) imaging revealed restricted diffusion patterns (high signal) on b = 1000 s/mm2 images associated with low apparent diffusion coefficient values ranging between 0.44 x 10-3 mm2/s and 0.56 x 10-3 mm2/s. On proton MR spectroscopy obtained in 1 of the patients, a prominent peak resonating at approximately 3.80 ppm was consistently present attributable to the peak rising from the alpha-proton of the phenylalanine molecule.
authors.affiliation: Department of Radiology, Ege University Hospital, Bornova, Izmir 35100, Turkey. rnsener@hotmail.com
authors.forename: R Nuri
authors.initials: RN
authors.lastname: Sener
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010661:Phenylketonurias / Q000473:pathology*