CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
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.
Gordon
K
K
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia.
Riding
M
M
Camfield
P
P
Bawden
H
H
Ludman
M
M
Bagnell
P
P
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
D006904:Hydroxymethylglutaryl-CoA Synthase