title: Proton MR spectroscopy in Lesch-Nyhan disease.
abstract: In vivo proton spectra for four patients with Lesch-Nyhan disease and four control subjects matched for age and sex were acquired from voxels (1.5 x 1.5 x 1.5 cm3) placed in the prefrontal cortex and striatum. The patients with Lesch-Nyhan disease had decreased metabolites, especially N-acetylaspartate and glutamate/glutamine, only in the prefrontal cortex as compared with the control group. These findings suggest axonal loss in the prefrontal area of this population. The cortical glutamate/glutamine peak decrement does not confirm cytopathologic studies of Lesch-Nyhan disease and deserves further investigation.
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of California, Los Angeles 90024, USA.
authors.forename: P
authors.initials: P
authors.lastname: Davanzo
authors.forename: Y
authors.initials: Y
authors.lastname: Ke
authors.forename: M A
authors.initials: MA
authors.lastname: Thomas
authors.forename: C
authors.initials: C
authors.lastname: Anderson
authors.forename: B
authors.initials: B
authors.lastname: King
authors.forename: T
authors.initials: T
authors.lastname: Belin
authors.forename: J
authors.initials: J
authors.lastname: Levitt
authors.forename: J
authors.initials: J
authors.lastname: Curran
authors.forename: B
authors.initials: B
authors.lastname: Guze
mesh_terms: D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002794:Choline / Q000378:metabolism; D003342:Corpus Striatum / Q000378:metabolism; D018698:Glutamic Acid / Q000378:metabolism; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D007294:Inositol / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D017397:Prefrontal Cortex / Q000378:metabolism; D011522:Protons
chemical_list: D011522:Protons; D005973:Glutamine; D001224:Aspartic Acid; D018698:Glutamic Acid; D007294:Inositol; C000179:N-acetylaspartate; D002794:Choline