Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

► The present case provides us with a number of important lessons. ► Newborn screening is based upon the detection of persistent increase C4-OH acylcarnitine. ► Isolated increase of 3-OHglutaric acid is an important biomarker of this disorder. ► Without molecular analysis we might have ruled out the possibility of SCHAD deficiency.