Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry
Susan Elliott,
Norman Buroker,
Jason J. Cournoyer,
Anna M. Potier,
Joseph D. Trometer,
Carole Elbin,
Mack J. Schermer,
Jaana Kantola,
Aaron Boyce,
Frantisek Turecek,
Michael H. Gelb,
C. Ronald Scott
Affiliations
Susan Elliott
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Norman Buroker
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Jason J. Cournoyer
PerkinElmer, Waltham, MA 02451, USA
Anna M. Potier
PerkinElmer, Waltham, MA 02451, USA
Joseph D. Trometer
PerkinElmer, Waltham, MA 02451, USA
Carole Elbin
PerkinElmer, Waltham, MA 02451, USA
Mack J. Schermer
PerkinElmer, Waltham, MA 02451, USA
Jaana Kantola
PerkinElmer, Turku 20750, Finland
Aaron Boyce
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Frantisek Turecek
Department of Chemistry, University of Washington, Seattle, WA 98195, USA
Michael H. Gelb
Department of Chemistry, University of Washington, Seattle, WA 98195, USA; Correspondence to: Department of Chemistry, University of Washington, 36 Bagley Hall, Seattle, WA 98195 USA. Tel.: +1 206 543 7142; fax: +1 206 685 8665.
C. Ronald Scott
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
In this data article we provide a detailed standard operating procedure for performing a tandem mass spectrometry, multiplex assay of 6 lysosomal enzymes for newborn screening of the lysosomal storage diseases Mucopolysaccharidosis-I, Pompe, Fabry, Niemann-Pick-A/B, Gaucher, and Krabbe, (Elliott, et al., 2016) [1]. We also provide the mass spectrometry peak areas for the product and internal standard ions typically observed with a dried blood spot punch from a random newborn, and we provide the daily variation of the daily mean activities for all 6 enzymes.
