Detection of GM1-gangliosidosis in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry.
Peiling SuHamid KhalediChristine WaggonerMichael H GelbPublished in: Journal of inherited metabolic disease (2020)
GM1-gangliosidosis is a rare autosomal recessive lysosomal storage disease caused by deficiency of β-galactosidase (GLB1). Newborn screening (NBS) may be warranted in the near future given the initiation of a number of gene therapy clinical trials. Here, we report a tandem mass spectrometry (MS/MS) enzymatic assay of GLB1 using dried blood spots (DBS), and the demonstration that GLB1 activities in newborn DBS from seven GM1-gangliosidosis patients are well below those measured in random newborn DBS. MS/MS analysis of two glycan biomarkers, dp5 and A2G2, shows high elevation in newborn DBS from GM1-gangliosidosis compared to the levels in the nonaffected reference range.
Keyphrases
- tandem mass spectrometry
- ultra high performance liquid chromatography
- high performance liquid chromatography
- ms ms
- liquid chromatography
- deep brain stimulation
- simultaneous determination
- gas chromatography
- gene therapy
- end stage renal disease
- clinical trial
- high resolution mass spectrometry
- solid phase extraction
- high resolution
- liquid chromatography tandem mass spectrometry
- mass spectrometry
- high throughput
- chronic kidney disease
- ejection fraction
- peritoneal dialysis
- newly diagnosed
- current status
- randomized controlled trial
- nitric oxide
- prognostic factors
- autism spectrum disorder
- patient reported outcomes
- patient reported