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J Magn Reson Imaging. 1996 Nov-Dec;6(6):889-93.

Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease.

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Department of Diagnostic Radiology, University of Cologne, Köln, Germany.


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.

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