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J Pediatr Genet 2017; 06(01): 051-060
DOI: 10.1055/s-0036-1593843
DOI: 10.1055/s-0036-1593843
Review Article
Newborn Screening for Lysosomal Storage Disorders
Further Information
Publication History
09 June 2015
28 August 2015
Publication Date:
02 December 2016 (online)
Abstract
Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditions continues to expand due to advances in screening technologies and the development of novel therapies. Consequently, some of the lysosomal storage disorders are now considered as candidates for newborn screening, although many challenges including identification of late-onset phenotypes remain. This review provides a critical appraisal of the current state of newborn screening for lysosomal storage disorders.
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