Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.

Journal Article (Journal Article)

Acylcarnitines were assayed in amniotic fluid by isotope dilution tandem mass spectrometry. Control values for propionylcarnitine, C4 and C5 acylcarnitines were established. Propionylcarnitine was elevated by a factor of 5 relative to controls in the amniotic fluid of three pregnancies affected with propionic acidaemia. This may provide a convenient new method for prenatal diagnosis of propionic acidaemia. One pregnancy at risk for propionic acidaemia but unaffected according to methylcitrate analysis had an intermediate level of propionylcarnitine, indicating the need for further studies to determine the range of concentration in probable heterozygotes.

Full Text

Duke Authors

Cited Authors

  • Van Hove, JL; Chace, DH; Kahler, SG; Millington, DS

Published Date

  • 1993

Published In

Volume / Issue

  • 16 / 2

Start / End Page

  • 361 - 367

PubMed ID

  • 8411998

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/BF00710283


  • eng

Conference Location

  • United States