Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography

Methylcitric acid, a metabolite of abnormal propionyl-CoA metabolism, is elevated in amniotic fluid when the fetus is affected with propionic acidaemia or methylmalonic aciduria. We developed a method for quantifying methylcitric acid in amniotic fluid by solid-phase extraction, derivatisation to the t-butyl-dimethylsilylester, and gas chromatography-mass spectrometry with electron-impact ionisation, using the deuterated analogue of methylcitric acid as an internal standard. The main advantages are a good sensitivity, simple sample preparation, and feasibility on instruments equipped with mass specific detectors.