First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

► We performed the first newborn screening for 4 lysosomal storage disorders in Italy. ► The screening was performed using enzymatic assay on Dry Blood Spot on filter paper. ► One newborn showed a reduction of beta-glucosidase activity. ► The sequence variation E388K on GBA was identified and characterized.