Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs

• Published in: International journal of neonatal screening Vol. 3; no. 2; p. 6
• Main Authors: Schielen, Peter C J I, Kemper, Evelien A, Gelb, Michael H
• Format: Journal Article
• Language: English
• Published: Switzerland 01-06-2017
• Subjects: enzyme replacement therapy; tandem mass spectrometry; hematopoietic stem cell transfer; lysosomal storage disease; fluorimetry; neonatal screening; biomarker; pilot screening program; newborn screening
• ISSN: 2409-515X; 2409-515X
• DOI: 10.3390/ijns3020006

Newborn screening for lysosomal storage diseases (LSDs) is increasingly being considered as an option. The development of analytical screening methods, of second-tier methods, and of therapeutic possibilities, are paving the way for routine screening for LSDs in the coming years. Here, we give a brief description of the current status quo, what screening methods are currently available or are in the pipeline, what is the current status of therapeutic possibilities for LSDs, what LSDs are the most obvious candidates for introduction in screening programs, and what LSDs are already part of regional or national pilot or routine screening programs worldwide.