title: Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders.
abstract: Noninvasive studies of cerebral metabolism were performed with use of localized proton MR spectroscopy (MRS) in both healthy controls (n = 4, age 6 weeks to 2 years) and infants (n = 4, age 3-15 months) who had impaired peroxisomal functions classified as variants of Zellweger syndrome. All patients revealed a marked decrease of N-acetylaspartate in white and gray matter, thalamus, and cerebellum, indicating impairment of normal neuronal development as well as neuronal loss. In two cases an increase of cerebral glutamine and a decrease of the cytosolic polyol myo-inositol in gray matter and striatum reflected the impact of a concomitant effect on hepatic function. Two cases 3 and 6 months of age exhibited a notable elevation of mobile lipids and/or cholesterol in white matter. These patients with severe disease died within 4 weeks after the MRS examination. While an increase of free fatty acids generally associated with a lysosomal storage disease was not consistently observed by proton MRS of brain, this technique provides a convenient and safe tool for the direct assessment of neuropathologic aspects of Zellweger syndrome such as neuronal degeneration, demyelination, and consequences of compromised liver function.
authors.affiliation: Max-Planck-Institut für biophysikalische Chemie, Göttingen, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Bruhn
authors.forename: B
authors.initials: B
authors.lastname: Kruse
authors.forename: G C
authors.initials: GC
authors.lastname: Korenke
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
authors.forename: W
authors.initials: W
authors.lastname: Hänicke
authors.forename: K D
authors.initials: KD
authors.lastname: Merboldt
authors.forename: J
authors.initials: J
authors.lastname: Frahm
mesh_terms: D000326:Adrenoleukodystrophy / Q000378:metabolism*; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D005260:Female; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D007223:Infant; D007294:Inositol / Q000378:metabolism; D009682:Magnetic Resonance Spectroscopy; D015211:Zellweger Syndrome / Q000378:metabolism*
chemical_list: D005973:Glutamine; D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate