Diffusion-weighted MR imaging and MR spectroscopy in glutaric aciduria type 1.
Although conventional magnetic resonance imaging (MRI) findings of glutaric aciduria type 1 (GA-1) have been well established, diffusion weighted MR imaging (DWI) and proton MR spectroscopy (MRS) findings are limited. We report widespread restricted diffusion in the white matter and increased diffusion in bilateral putamen in a case of GA-1. The MRS showed decreased N-acetyl-aspartate (NAA)/creatine (Cr) ratio compared with a sex and age-matched control with no significant change in choline (Cho)/Cr ratio. The presence of the lactate peak reflecting disturbed mitochondrial functions in this disease has never been reported.
Oguz
K K
KK
Department of Radiology, Faculty of Medicine, Hacettepe University, 06100, Sihhiye Ankara, Turkey. karlioguz@yahoo.com
Ozturk
A
A
Cila
A
A
D001921:Brain / Q000473:pathology*; D038524:Diffusion Magnetic Resonance Imaging; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000652:urine*
D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid