METHODS FOR ASSAYING PALMITOYL PROTEIN THIOESTERASE 1 AND TRIPEPTIDYL PEPTIDASE ACTIVITY IN DRIED BLOOD SPOTS FOR DETECTION OF NEURONAL CEROID LIPOFUSCINOSES IN NEWBORNS

摘要

The present disclosure provides assays for lysosomal enzymes, specifically palmitoyl protein thioesterase 1 (PPT1) and tripeptidyl peptidase 1 (TPP1), using, for example, tandem mass spectrometry. The assays involve the detection of enzymatic products obtained through the action of the lysosomal enzymes on new enzyme substrates, and can be used for quantitative enzyme activity measurements. The assays for the enzymes utilize a minimum steps for sample work up and can be run in a simplex format or in a duplex format for the detection of neuronal ceroid lipofuscinoses, or in a multiplex format with other mass spectrometry-based assays for screening of neuronal ceroid lipofuscinoses and other lysosomal storage disorders.