Newborn screening for lysosomal storage disorders: Ethical and technical considerations

Peter J. Meikle, C. J. Dean, D. A. Brooks, J. J. Hopwood

Research output: Contribution to journalReview article


Over recent years, significant progress has been made in the development of therapeutic options for lysosomal storage disorders. Currently, there are therapy options, either approved or in clinical trials, for over 75% of patients. The effectiveness of these therapies, particularly for those disorders involving central nervous system and bone pathologies, will rely heavily upon the early diagnosis and commencement of treatment, before the onset of irreversible pathology. In the absence of a family history, the only practical way to identify patients presymptomatically is through a newborn screening program. In this review, the ethical and technical issues associated with such a program are discussed.

Original languageEnglish
Pages (from-to)305-311
Number of pages7
JournalItalian Journal of Pediatrics
Issue number5
Publication statusPublished - 1 Oct 2004


  • Biomarker
  • Early diagnosis
  • Lysosomal storage disorder
  • Newborn screening
  • Therapy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Meikle, P. J., Dean, C. J., Brooks, D. A., & Hopwood, J. J. (2004). Newborn screening for lysosomal storage disorders: Ethical and technical considerations. Italian Journal of Pediatrics, 30(5), 305-311.