Newborn Screening for Lysosomal Storage Disorders

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.

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