title: [Neuroradiologic findings of glutaric aciduria type I].
abstract: Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in increased levels of glutaric acid, which typically becomes clinically manifest as an acute dystonic crisis in young children. Accumulation of glutaric acid causes neurotoxicity in the basal ganglia and fronto-temporal cortex which can lead to progressive dystonia, hypotonia, permanently impaired speech and seizures. Because dietary and drug therapy may alter the natural history of the disease, early diagnosis of such patients is critical. We report the magnetic resonance (MR) imaging findings in a 16 year-old girl with this disorder who presented with a chronic dystonic syndrome and previously diagnosed of brain paralysis. MR imaging demonstrated bilateral involvement of the putamina and periventricular white matter, and bilateral temporal atrophy and widened Silvian fissures.
authors.affiliation: Servicio de Radiología, Clínica Universitaria, Facultad de Medicina, Universidad de Navarra, Pamplona. edeluis@unav.es
authors.forename: E
authors.initials: E
authors.lastname: de Luis
authors.forename: J
authors.initials: J
authors.lastname: Larrache
authors.forename: R
authors.initials: R
authors.lastname: García-Eulate
authors.forename: J Narbona
authors.initials: JN
authors.lastname: García
authors.forename: J L
authors.initials: JL
authors.lastname: Zubieta
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging* / Q000178:diet therapy / Q000235:genetics / Q000652:urine; D001921:Brain / Q000000981:diagnostic imaging*; D004401:Dysarthria / Q000000981:diagnostic imaging* / Q000178:diet therapy / Q000235:genetics / Q000652:urine; D020821:Dystonic Disorders / Q000000981:diagnostic imaging* / Q000178:diet therapy / Q000235:genetics / Q000652:urine; D005260:Female; D005977:Glutarates / Q000652:urine; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency*; D006801:Humans; D007859:Learning Disabilities / Q000000981:diagnostic imaging / Q000178:diet therapy / Q000235:genetics / Q000652:urine; D008279:Magnetic Resonance Imaging; D028361:Mitochondrial Diseases / Q000000981:diagnostic imaging* / Q000178:diet therapy / Q000235:genetics / Q000652:urine; D011699:Putamen / Q000000981:diagnostic imaging; D011859:Radiography; D013702:Temporal Lobe / Q000000981:diagnostic imaging
chemical_list: D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid