Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26.


The lysosomal storage disorders (LSDs) are a group of genetic disorders resulting from defective lysosomal metabolism and subsequent accumulation of substrates. Patients present with a large phenotypic spectrum of disease manifestations that are generally not specific for LSDs, leading to considerable diagnostic delay and missed cases. Introduction of new disease modifying therapies for LSDs has made early diagnosis a priority. Increased awareness, but particularly the introduction of screening programs allow for early diagnosis and timely initiation of treatment. This review will provide insight into the epidemiology and diagnostic process for LSDs. In addition, challenges for carrier screening, high-risk screening and newborn population screening for LSDs are discussed.

Keywords: carrier screening; diagnosis; epidemiology; high-risk screening; lysosomal storage disorders; newborn screening.

Publication types

  • Review

MeSH terms

  • Early Diagnosis
  • Early Medical Intervention
  • Genetic Carrier Screening / methods*
  • Humans
  • Infant, Newborn
  • Lysosomal Storage Diseases / diagnosis*
  • Lysosomal Storage Diseases / epidemiology
  • Neonatal Screening / methods*
  • Risk Assessment