title: Glutaric aciduria type I: a neuroimaging diagnosis?
abstract: Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl-coenzyme A (CoA) dehydrogenase deficiency. We report a previously healthy 17-month-old girl who presented with acute dystonia. Conventional T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed hyperintensity in the caudates and putamina bilaterally with subtle involvement of the medial frontal lobes. Diffusion-weighted magnetic resonance images showed striking restricted diffusion in the caudates and putamina consistent with acute necrosis. Single-voxel hydrogen magnetic resonance spectroscopy of the involved areas was normal. The clinical diagnosis of glutaric aciduria type I was confirmed by elevation of 3-hydroxyglutaric and glutaric acids. Diffusion-weighted magnetic resonance imaging is a sensitive indicator of basal ganglia necrosis in glutaric aciduria type I.
authors.affiliation: Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA. csantos@wfubmc.edu
authors.forename: Cesar C
authors.initials: CC
authors.lastname: Santos
authors.forename: E Steve
authors.initials: ES
authors.lastname: Roach
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency*
chemical_list: D005977:Glutarates; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid