Dear Colleagues,

Newborn screening for lysosomal storage disorders (LSDs) has gained significant momentum during the past two years, especially in the United States, during which time the addition of Pompe Disease (GSD II) and Hurler Syndrome (MPS I) to the recommended universal screening panel (RUSP) have been major stimuli.

The main driving force for the expansion of newborn screening to the LSDs has been the emergence of new therapeutic strategies, especially enzyme replacement and hematopoietic stem cell transplantation, that have given new hope to families with affected children. Furthermore, the development of fluorometric enzymatic assays for LSDs in dried blood spots that began with the pioneering work of Nestor Chamoles in 2001 and boosted by Michael Gelb’s tandem mass spectrometry (MS/MS) method that was first applied in 2004 to galactosylceramidase, the enzyme that is deficient in Krabbe Disease, enables early detection of affected newborns who can potentially benefit the most from the new therapies. Modifications that permit multiplexing of LSD enzyme assays using either MS/MS or digital microfluidic fluorometry have facilitated high-throughput prospective screening for multiple LSDs, and both of these methods are now in use in several programs.

In spite of these developments, many have argued against screening for LSDs, citing concerns arising from the expense and variable efficacy of current treatment options and the preponderance of cases detected by NBS with later onset forms of disease, pseudodeficiency alleles, genetic variants of unknown significance and carriers.  Accordingly, post-analytical methods including statistical analytical tools and second-tier biochemical tests have been developed or are under development to help clarify these challenging outcomes of LSD newborn screening.

With so many active developments and improvements in the field of LSD newborn screening, the International Journal of Newborn Screening is planning to dedicate a Special Issue to this topic. Manuscripts on all aspects, including results of established NBS programs, pilot studies, post-analytical methods to improve the positive predictive value, new or improved treatment strategies and outcomes, ethical considerations and counter-arguments to LSD screening are welcome.

Prof. Dr. David S. Millington
Dr. Janice Fletcher
Guest Editors

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