title: Proton magnetic resonance spectroscopy of Sjögren-Larsson syndrome heterozygotes.
abstract: A deficit of fatty alcohol:NAD+ oxidoreductase complex (FAO) activity has been detected in patients with the Sjögren-Larsson syndrome (SLS). A moderate decrease in FAO activity has also been reported in heterozygote SLS subjects. Abnormal peaks were detected with proton magnetic resonance spectroscopy (1H-MRS) in homozygote SLS subjects. The purpose of this study was to examine whether 1H-MRS can be used to detect metabolic and/or pathological abnormalities in heterozygote SLS subjects. Four SLS heterozygotes were examined using 1H-MRS. A moderate decrease in FAO activity was demonstrated in two of the four heterozygotes. Abnormal peaks were detected at 0.9 ppm in the spectrum from cerebral hemispheres of every heterozygote. 1H-MRS was able to detect an abnormal accumulation of fatty alcohols and lipids, which is expected to increase due to an decrease in FAO activity or dysmyelination in heterozygote SLS subjects. Thus, 1H-MRS is suggested to be a powerful tool in the screening of SLS heterozygotes.
authors.affiliation: Department of Radiology Tracer Kinetics, Osaka University Medical School, Osaka, Japan. kami@med.teikyo-u.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Kaminaga
authors.forename: T
authors.initials: T
authors.lastname: Mano
authors.forename: J
authors.initials: J
authors.lastname: Ono
authors.forename: H
authors.initials: H
authors.lastname: Kusuoka
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Nishimura
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010375:Pedigree; D012680:Sensitivity and Specificity; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D000429:Alcohol Oxidoreductases; C065402:long-chain-alcohol dehydrogenase