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Acylcarnitines in amniotic fluid: Application to the prenatal diagnosis of propionic acidaemia
Author(s) -
Van Hove J. L. K.,
Chace D. H.,
Kahler S. G.,
Millington D. S.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710283
Subject(s) - amniotic fluid , prenatal diagnosis , isotope dilution , endocrinology , fetus , pregnancy , medicine , amniocentesis , chemistry , chromatography , biology , mass spectrometry , genetics
Summary Acylcarnitines were assayed in amniotic fluid by isotope dilution tandem mass spectrometry. Control values for propionylcarnitine, C 4 and C 5 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.