Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry

Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) can be detected through newborn screening with tandem mass spectrometry. We report a patient who died as a result of severe brain injury due to hypoglycemia. Newborn screening was normal. Postmortem enzyme analysis and molecular testing confirmed the diagnosis of VLCADD.