Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

We have developed methods for the measurement of the medium-chain fatty acids octanoate, decanoate and cis-4-decenoate and the acylglycines n-hexanoylglycine (HG) and 3-phenylpropionylglycine (PPG) in blood spots using gas chromatography and mass spectrometry. Normal ranges were obtained for octanoate and decanoate. HG, PPG and cis-4-decenoic acid were not detected in control blood spots. In blood spots from nine patients (including two newborn) with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, all metabolites were present in elevated concentrations although PPG was close to the detection limits and there was overlap for octanoate and decanoate. The lack of detection of cis-4-decenoic acid and HG in controls suggests that these are the metabolites of choice for blood spot identification of infants with MCAD deficiency.