Convenient and Sensitive Assay for the Screening of Lysosomal Storage Disorders

Abstract

Lysosomal storage diseases such as Fabry disease comprise a rare set of disorders that may be undiagnosed until adult life when therapies, including enzyme replacement, substrate depletion, and molecular chaperones, are less effective. Routine clinical diagnoses and laboratory tests by direct enzyme assay are available only at selected specialized major research centers and are not generally available due to the requirements for dedicated and expensive reagents, equipment, and personnel. We report here the development of a convenient, sensitive and rapid continuous enzyme assay for routine screening and diagnosis that can be carried out using microtiter plate assays that is also suitable for automated multiplex, high‐throughput, and robotic analyses. The incidence of individual lysosomal storage diseases is low, but considered together these disorders comprise significant morbidity and mortality with a cumulative incidence of about 1:5,000, and newborn screening studies suggest that it could be significantly higher. Early diagnosis and treatment of Fabry disease and 24 other lysosomal storage disorders is expected to result a significant reduction in morbidity and mortality with concomitant reduction in medical support and expenses.Support or Funding InformationNIH SBIR Grants and Royalty Income From PatentsThis abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.