title: CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
abstract: Siblings with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency were evaluated with CT and MR. Both imaging studies demonstrated a leukodystrophy with preferential involvement of the deeper arcuate fibers.
authors.affiliation: Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia.
authors.forename: K
authors.initials: K
authors.lastname: Gordon
authors.forename: M
authors.initials: M
authors.lastname: Riding
authors.forename: P
authors.initials: P
authors.lastname: Camfield
authors.forename: H
authors.initials: H
authors.lastname: Bawden
authors.forename: M
authors.initials: M
authors.lastname: Ludman
authors.forename: P
authors.initials: P
authors.lastname: Bagnell
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001111:Arcuate Nucleus of Hypothalamus / Q000000981:diagnostic imaging / Q000473:pathology; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006904:Hydroxymethylglutaryl-CoA Synthase / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed
chemical_list: D006904:Hydroxymethylglutaryl-CoA Synthase