ACADM and medium chain acyl-CoA dehydrogenase deficiency: Newborn screening (NBS) for MCAD deficiency has recently been implemented worldwide using liquid chromatography-tandem mass spectrometry (LC-MS/MS) to analyze blood spots from newborns for acylcarnitines thus making the identification of asymptomatic patients and the identification of a much wider spectrum of genetic lesions in the ACADM gene possible [5, 13–16].