title: L-2 hydroxyglutaric aciduria: proton magnetic resonance spectroscopy and diffusion magnetic resonance imaging findings.
abstract: A 10-month-old boy was reported with the diagnosis of L-2 hydroxyglutaric aciduria. Amino acid chromatographic analysis revealed an 80-fold increase of hydroxyglutaric acid in the urine. Proton magnetic resonance (MR) spectroscopy of the brain obtained with the hybrid chemical shift imaging sequence (repetition time = 1,500 milliseconds, echo time = 40 milliseconds) revealed prominent peaks resonating at 2.50 ppm, which were attributable to L-2 hydroxyglutaric acid. Diffusion MR imaging was obtained using the echo-planar trace sequence (repetition time = 5,700 milliseconds, echo time = 139 milliseconds). Two different diffusion patterns were evident: a restricted diffusion pattern in the globi pallidi and an increased diffusion pattern in the white matter.
authors.affiliation: Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey. rnsener@hotmail.com
authors.forename: R Nuri
authors.initials: RN
authors.lastname: Sener
mesh_terms: D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000378:metabolism; D038524:Diffusion Magnetic Resonance Imaging; D005977:Glutarates / Q000032:analysis / Q000652:urine*; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D005977:Glutarates; C019417:alpha-hydroxyglutarate