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: H J Wittsack, H Kugel, B Roth, W Heindel
• Journal: Journal of magnetic resonance imaging : JMRI (J Magn Reson Imaging) 1996 Nov-Dec Vol. 6 Issue 6 Pg. 889-93 ISSN: 1053-1807 [Print] United States
• PMID: 8956134 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Aspartic Acid
• N-acetylaspartate
• Choline

Topics

• Aspartic Acid (analogs & derivatives, metabolism)
• Brain (metabolism)
• Canavan Disease (metabolism)
• Choline (metabolism)
• Female
• Humans
• Infant
• Magnetic Resonance Spectroscopy (instrumentation, methods)
• Male
• Reference Values