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Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis

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Journal of Inherited Metabolic Disease

Summary

Amniocentesis was performed in four pregnancies at risk for Canavan disease (CD). In all families both parents were of Ashkenazi-Jewish origin and harboured the C854 mutation in the cDNA of the aspartoacylase gene. Using DNA analysis of the amniotic cells, three fetuses were predicted to be non-affected and one fetus was predicted to be affected. The concentration ofN-acetylaspartic acid (NAA) in the amniotic fluid was in agreement with these results. In urine samples of the three newborns predicted to be non-affected, the concentration of NAA was normal. Tissues of the aborted fetus were not available. We conclude that DNA analysis is probably a reliable method for prenatal diagnosis of CD.

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Authors and Affiliations

  1. Metabolic Unit, Shaare-Zedek Medical Center, 91031, Jerusalem, Israel

    O. N. Elpeleg, A. Shaag & Y. Anikster

  2. Laboratory of Pediatrics, Free University Hospital, Amsterdam, The Netherlands

    C. Jakobs

Authors
  1. O. N. Elpeleg
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  2. A. Shaag
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  3. Y. Anikster
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  4. C. Jakobs
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Elpeleg, O.N., Shaag, A., Anikster, Y. et al. Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis. J Inherit Metab Dis 17, 664–666 (1994). https://doi.org/10.1007/BF00712008

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  • DOI: https://doi.org/10.1007/BF00712008

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