Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry.

ABSTRACT: Tandem mass spectrometry for the multiplex and quantitative analysis of enzyme activities in dried blood spots on newborn screening cards has emerged as a powerful technique for early assessment of lysosomal storage diseases. Here we report the design and process-scale synthesis of substrates for the enzymes α-l-iduronidase, iduronate-2-sulfatase, and N-acetylgalactosamine-4-sulfatase that are used for newborn screening of mucopolysaccharidosis types I, II, and VI. The products contain a bisamide unit that is hypothesized to readily protonate in the gas phase, which improves detection sensitivity by tandem mass spectrometry. The products contain a benzoyl group, which provides a useful site for inexpensive deuteration, thus facilitating the preparation of internal standards for the accurat

SUBMITTER: Chennamaneni NK 

PROVIDER: S-EPMC4014144 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature