Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry

Elisa Legini, Joseph J. rsini, Christina Hung, Monica Martin, Amanda Showers, Maurizio Scarpa, X. Kate Zhang, Joan Keutzer, Adolf Mühl, Olaf A. Bodamer

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Background: Gaucher disease (GD) is due to deficiency of acid-β-glucosidase (ABG) and comprises a clinical spectrum with variable age of onset and severity. We evaluated a tandem mass spectrometry (MS/MS) method to measure ABG activity for high through-put screening. Methods: ABG activity was measured in 3.2mm punches from dry blood spots (DBS). Each punch was incubated for 21h with the substrate D-Glucosyl-β1-1β-N-dodecanoyl-D-erythro-sphingosine [C12-glucocerebroside (C36H69NO8)] and internal standard N-myristoyl-D-erythro-sphingosine [C14-ceramide (C32H63NO3)]. The product and internal standard were quantified using MS/MS. Results: ABG activities in anonymized newborn screening samples from NY State were (mean) 22.0 μmol/h/L ± (SD) 13.8 μmol/h/L (n=2088, median 19.9 μmol/h/L, 95%CI 22.59-21.41 μmol/h/L). The enzymatic activity in DBS from 10 treatment naïve adult Gaucher patients was less than 4.2 μmol/h/L. ABG activity was stable for 3. months at room temperature a 20% activity reduction was observed. Inter- and intra-run imprecisions were 8% and 13.7%, respectively. The limit of detection was 0.75 μmol/h/L and limit of quantification was 1.25 μmol/h/L. Conclusions: The measurement of ABG activities in DBS using MS/MS is suitable for high-throughput analysis of at-risk individuals and potentially for newborn screening for GD.

Original languageEnglish (US)
Pages (from-to)343-346
Number of pages4
JournalClinica Chimica Acta
Issue number3-4
StatePublished - Jan 30 2011
Externally publishedYes


  • Dry blood spot
  • Enzyme
  • Filter card
  • Lysosomal
  • Mass spectrometry

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical


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