Screening of lysosomal storage disorders: Application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis i

Daniela Ombrone, Sabrina Malvagia, Silvia Funghini, Elisa Giocaliere, Maria Luisa Della Bona, Giulia Forni, Alessio De Luca, Fabio Villanelli, Bruno Casett, Renzo Guerrini, Giancarlo La Marca

Research output: Contribution to journalArticle

Abstract

In recent years, new treatments have become available to treat some lysosomal storage disorders (LSDs) and many studies suggest that there is a benefit with starting therapy early. Newborn screening should detect diseases early enough for prompt treatment. Some countries include additional conditions, such as some LSDs, into their newborn screening panels. Mucopolysaccharidosis Type I (MPS I) is an autosomal recessive disorder caused by the deficiency of α-l-iduronidase (IDUA) activity. Currently, enzyme replacement therapy (ERT) or bone marrow transplantation is available and this has raised a growing interest for the development of a newborn screening test. In 2009, we reported a new fast and simplified tandem mass spectrometry-based method for quantifying five enzyme activities on dried blood spots. Here, we describe the inclusion of IDUA activity determination for the simultaneous detection of six lysosomal storage diseases. We have defined reference normal ranges by testing 680 healthy newborns and 240 adults. The assay was checked through three confirmed MPS I patients whose IDUA activity was below the normal range. Reproducibility of the assays has been established by assessing the intra-day and inter-day assay imprecisions. This quick assay has been devised to be implemented in newborn screening by liquid chromatography tandem mass spectrometry.

Original languageEnglish
Pages (from-to)497-503
Number of pages7
JournalEuropean Journal of Mass Spectrometry
Volume19
Issue number6
DOIs
Publication statusPublished - 2013

Keywords

  • A-l-iduronidase
  • Dried blood spot
  • Lysosomal storage disorders
  • Mucopolysaccharidosis type I
  • Online trapping
  • Tandem mass spectrometry

ASJC Scopus subject areas

  • Spectroscopy
  • Atomic and Molecular Physics, and Optics
  • Medicine(all)

Fingerprint Dive into the research topics of 'Screening of lysosomal storage disorders: Application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis i'. Together they form a unique fingerprint.

  • Cite this

    Ombrone, D., Malvagia, S., Funghini, S., Giocaliere, E., Della Bona, M. L., Forni, G., De Luca, A., Villanelli, F., Casett, B., Guerrini, R., & La Marca, G. (2013). Screening of lysosomal storage disorders: Application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis i. European Journal of Mass Spectrometry, 19(6), 497-503. https://doi.org/10.1255/ejms.1257