Newborn Screening for Lysosomal Storage Disorders

J Pediatr Health Care. 2018 May-Jun;32(3):285-294. doi: 10.1016/j.pedhc.2017.04.016.


Lysosomal storage disorders (LSDs) are a heterogeneous group of approximately 50 rare inherited metabolic conditions that result from enzyme deficiencies that interfere with lysosome function. Although often grouped together, there is great variability regarding age of onset, severity, treatment, and outcomes for each disorder and subtype. Currently, laboratory methods are available to test newborns for seven of these conditions. Although newborn screening programs remain state-based, each at a different phase of condition review and implementation, if newborn screening for LSDs has not yet been adopted by the state within which you practice, it likely will. Given the extremely low prevalence and limited provider familiarity with these conditions, this article provides an overview of LSDs and the seven conditions for which newborn screening is available. It offers information about each of the conditions including enzyme deficiency, mode of inheritance, incidence rates, types, clinical course, and available as well as potential treatment options.

Keywords: Lysosomal storage disorder; lysosomal storage disease; lysosomal enzyme disorder; newborn screening.

Publication types

  • Review

MeSH terms

  • Fabry Disease / diagnosis
  • Gaucher Disease / diagnosis
  • Glycogen Storage Disease Type II / diagnosis
  • Humans
  • Infant, Newborn
  • Leukodystrophy, Globoid Cell / diagnosis
  • Lysosomal Storage Diseases / diagnosis*
  • Neonatal Screening / methods*
  • Niemann-Pick Diseases / diagnosis