Ontology highlight
ABSTRACT:
SUBMITTER: Barcenas M
PROVIDER: S-EPMC4372105 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Barcenas Mariana M Xue Chang C Marushchak-Vlaskin Tatyana T Scott C Ronald CR Gelb Michael H MH Tureček František F
Analytical chemistry 20140721 15
We report new substrates for quantitative enzyme activity measurements of human palmitoyl protein thioesterase (PPT1) and tripeptidyl peptidase (TPP1) in dried blood spots from newborns using tandem mass spectrometry. Deficiencies in these enzyme activities due to inborn errors of metabolism cause neuronal ceroid lipofuscinoses. The assays use synthetic compounds that were designed to mimic the natural substrates. Incubation produces nanomole quantities of enzymatic products per a blood spot tha ...[more]