title: Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.
abstract: We have performed localized in vivo proton magnetic resonance spectroscopy on two females with ornithine carbamoyl transferase deficiency during episodes of acute hyperammonemic encephalopathy with focal neurologic abnormalities. Spectra obtained from 2 x 2 x 2 cm cubic volumes at relatively long (135-ms) echo times contain additional signals that are characteristic of glutamine and indicate that glutamine is present in very high concentrations in the brain. The findings are consistent with the hypothesis that intracerebral accumulation of glutamine contributes to the encephalopathy associated with hyperammonemia. In one of the children, spectra obtained after treatment showed a marked decrease in the glutamine signals.
authors.affiliation: Institute of Child Health, London, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Connelly
authors.forename: J H
authors.initials: JH
authors.lastname: Cross
authors.forename: D G
authors.initials: DG
authors.lastname: Gadian
authors.forename: J V
authors.initials: JV
authors.lastname: Hunter
authors.forename: F J
authors.initials: FJ
authors.lastname: Kirkham
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism; D000641:Ammonia / Q000097:blood; D001921:Brain / Q000378:metabolism*; D001927:Brain Diseases / Q000209:etiology / Q000378:metabolism; D002648:Child; D005260:Female; D005973:Glutamine / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020163:Ornithine Carbamoyltransferase Deficiency Disease
chemical_list: D005973:Glutamine; D000641:Ammonia