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Presented at 2015_EU

Diagnosis of Inborn Metabolic Disorders via Absolute Enzymatic Activity
Zdenek Spacil
University of Washington

The newborn screening for lysosomal storage disorders, such as sphingolipidoses or mucopolysacharidoses is critical to detect affected individuals and to timely initiate treatment. Over 15 screening assays developed in our lab measure activity of lysosomal enzymes in dried blood samples (DBS) by tandem mass spectrometry technology (SRM). These assays greatly outperform other screening tests, such as fluorometric assays in terms of sensitivity and specificity, are easy to implement and allow for multiplexing, which was collectively demonstrated in numerous pilot studies worldwide. Besides the latest development and clinical data from pilot studies, we are planning to present on the absolute enzyme activity measurement in highly purified leukocyte populations as a second-tier diagnostic test, which is transforming the field.

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