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

O. N. Elpeleg, A. Shaag, Y. Anikster, C. Jakobs

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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 of N-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.

Original languageEnglish
Pages (from-to)664-666
Number of pages3
JournalJournal of Inherited Metabolic Disease
Issue number6
StatePublished - Nov 1994
Externally publishedYes


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