Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Raymond Y. Wang, Olaf A. Bodamer, Michael S. Watson, William R. Wilcox

Research output: Contribution to journalArticlepeer-review

138 Scopus citations


PURPOSE: To develop educational guidelines for the diagnostic confirmation and management of individuals identified by newborn screening, family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal or postnatal testing of those who are presymptomatic for a lysosomal storage disease. METHODS: Review of English language literature and discussions in a consensus development panel comprised an international group of experts in the clinical and laboratory diagnosis, treatment and management, newborn screening, and genetic aspects of lysosomal storage diseases. RESULTS: Although clinical trial and longitudinal data were used when available, the evidence in the literature is limited and consequently the recommendations must be considered as expert opinion. Guidelines were developed for Fabry, Gaucher, and Niemann-Pick A/B diseases, glycogen storage type II (Pompe disease), globoid cell leukodystrophy (Krabbe disease), metachromatic leukodystrophy, and mucopolysaccharidoses types I, II, and VI. CONCLUSION: These guidelines serve as an educational resource for confirmatory testing and subsequent clinical management of presymptomatic indivduals suspected to have a lysosomal storage disease; they also help to define a research agenda for longitudinal studies such as the American College of Medical Genetics/National Institutes of Health Newborn Screening Translational Research Network.

Original languageEnglish
Pages (from-to)457-484
Number of pages28
JournalGenetics in Medicine
Issue number5
StatePublished - May 1 2011


  • consensus guidelines
  • enzyme replacement therapy
  • lysosomal storage disease
  • newborn screening
  • presymptomatic

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals'. Together they form a unique fingerprint.

Cite this