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

J Inherit Metab Dis. 1994;17(6):664-6. doi: 10.1007/BF00712008.

Abstract

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.

MeSH terms

  • Amidohydrolases / genetics
  • Amniotic Fluid / chemistry
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / analysis
  • Base Sequence
  • Canavan Disease / diagnosis
  • Canavan Disease / genetics*
  • DNA / analysis*
  • Female
  • Humans
  • Molecular Sequence Data
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Aspartic Acid
  • DNA
  • N-acetylaspartate
  • Amidohydrolases
  • aspartoacylase