Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening

Abstract

Newborn screening is recognized as a highly effective public health program to detect certain diseases before detrimental longterm health consequences occur. With advances in screening technologies and therapeutic options becoming available, the US Department of Health and Human Services recently added 2 lysosomal storage disorders (LSDs), Pompe disease and mucopolysaccharidosis I (MPS I), to the Recommended Uniform Screening Panel. 1 In addition, several states have legislative mandates to screen for other LSDs not on the Recommended Uniform Screening Panel. The Missouri State Public Health Laboratory has used a fluorimetric enzyme activity test on a digital microfluidic platform to screen all samples from newborns that were received since January 11, 2013, for Pompe, MPS I, Gaucher, and Fabry disorders. We herein present our findings on incidence rates for these LSDs from 4 years of full-population testing. These results represent, to our knowledge, the longest prospective, unblinded, full-population testing and follow-up for these LSDs in the United States.