ACYLCARNITINES IN AMNIOTIC-FLUID - APPLICATION TO THE PRENATAL-DIAGNOSIS OF PROPIONIC ACIDEMIA

Acylcarnitines were assayed in amniotic fluid by isotope dilution tand em 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 pregn ancies affected with propionic acidaemia. This may provide a convenien t new method for prenatal diagnosis of propionic acidaemia. One pregna ncy at risk for propionic acidaemia but unaffected according to methyl citrate analysis had an intermediate level of propionylcarnitine, indi cating the need for further studies to determine the range of concentr ation in probable heterozygotes.