Ontology highlight
ABSTRACT:
SUBMITTER: Khaledi H
PROVIDER: S-EPMC6423508 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Khaledi Hamid H Liu Yang Y Masi Sophia S Gelb Michael H MH
Analytical chemistry 20180924 20
A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots (DBS) is presented. Deficiency in this enzyme leads to infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease, CLN1). The assay could distinguish between 80 healthy newborns and three previously diagnosed INCL patients. Unlike the fluorimetric PPT1 assay, the MS/MS assay does not require recombinant β-glucosidase. Furthe ...[more]