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Quantitative measurements with localized 1 H MR spectroscopy in children with Canavan's disease
Author(s) -
Wittsack H.J.,
Kugel Harald,
Roth B.,
Heindel W.
Publication year - 1996
Publication title -
journal of magnetic resonance imaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.563
H-Index - 160
eISSN - 1522-2586
pISSN - 1053-1807
DOI - 10.1002/jmri.1880060609
Subject(s) - leukodystrophy , choline , enzyme , krabbe disease , disease , nuclear magnetic resonance , chemistry , medicine , endocrinology , pathology , biochemistry , physics
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.