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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of more than 50 inherited metabolic disorders where enzyme deficiency inhibits the ability of the lysosomes present in each of the body’s cells to function normally. Recent discoveries of new therapies coupled with novel screening methods has led to the adoption of newborn screening for several LSDs around the world. To facilitate this adoption, a new study by Sander KA et al (2020) examined the variability and comparative effectiveness in performance of three high-throughput screening techniques for the simultaneous screening of four LSDs: Fabry disease, Gaucher disease, mucopolysaccharidosis type I, and Pompe disease. This international study published in the International Journal of Neonatal Screening reveals that all three approaches have high sensitivity and the use of post-analytical interpretative tools reduces the need for disease-specific 2nd tier tests. The findings from this important study should accelerate the adoption of LSD newborn screening.

Author Karen A. Sanders is a researcher affiliated with the Biochemical Genetics Laboratory in the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota.

The corresponding author Dieter Matern, MD PhD is an expert in the biochemical diagnosis of inborn errors of metabolism and former member of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). 

The Newborn Screening Translational Network (NBSTRN) is an international network of clinicians, researchers, parents and advocates working together to discover new technologies and treatments to advance newborn screening research. Dr. Matern is a former member of the NBSTRN Steering Committee and current member of NBSTRN expert workgroups. NBSTRN provided funding to support the work presented in this study.  

Read more about Newborn Screening Methods for Four Lysosomal Storage Disorders at 

Sanders, K.A.; Gavrilov, D.K.; Oglesbee, D.; Raymond, K.M.; Tortorelli, S.; Hopwood, J.J.; Lorey, F.; Majumdar, R.; Kroll, C.A.; McDonald, A.M.; Lacey, J.M.; Turgeon, C.T.; Tucker, J.N.; Tang, H.; Currier, R.; Isaya, G.; Rinaldo, P.; Matern, D. A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. Int. J. Neonatal Screen. 20206, 44.


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