PRENATAL-DIAGNOSIS OF ORGANIC ACIDEMIAS BASED ON AMNIOTIC-FLUID LEVELS OF ACYLCARNITINES

Acylcarnitines in amniotic fluid samples were analyzed for the prenata l diagnosis of propionic acidemia, methylmalonic aciduria, isovaleric acidemia, and glutaric aciduria by electrospray tandem mass spectromet ry. Although the levels of the specific acylcarnitine between affected and unaffected cases showed an overlap, the ratios of propionylcarnit ine to 4-carbon acylcarnitine levels for propionic acidemia and methyl malonic aciduria, those of isovalerylcarnitine to propionylcarnitine f or isovaleric acidemia, and those of glutarylcarnitine to propionylcar nitine for glutaric aciduria type I were shown to be reliable indicato rs in the prenatal diagnosis. In addition, it is suggested that the co mbination of the ratios of glutarylcarnitine, isovalerylcarnitine, and hexanoylcarnitine to propionylcarnitine may be useful for the prenata l diagnosis of glutaric aciduria type II.