title: Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease.
abstract: Canavan's disease is an autosomal recessive hereditary leukodystrophy resulting from deficiency of the enzyme aspartoacylase. Two children suffering from this metabolic brain disease were examined using image-guided localized proton spectroscopy. The absolute concentrations of metabolites were determined. These data demonstrate, for the first time, that the well known increase of the N-acetylaspartic acid (NAA)/Cho ratio in this disease may be not only due to a reduction of choline-containing compounds in brain tissue but, at least in specific cases, also due to an increase of the NAA concentration, which is a result of the enzyme defect.
authors.affiliation: Department of Diagnostic Radiology, University of Cologne, Köln, Germany.
authors.forename: H J
authors.initials: HJ
authors.lastname: Wittsack
authors.forename: H
authors.initials: H
authors.lastname: Kugel
authors.forename: B
authors.initials: B
authors.lastname: Roth
authors.forename: W
authors.initials: W
authors.lastname: Heindel
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D017825:Canavan Disease / Q000378:metabolism*; D002794:Choline / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy / Q000295:instrumentation / Q000379:methods*; D008297:Male; D012016:Reference Values
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D002794:Choline