Simultaneous screening of 8 sphingolipidoses in children by analysis of lysosphingolipids in urine collected on filter paper
Sphingolipidoses include Gaucher’s disease, Krabbe’s disease, Fabry’s disease, Niemann-Pick (types A/B/C), metachromatic leukodystrophy, GM1 and GM2 gangliosidosis, Sandhoff disease and Farber disease.
The objectives of this research project are: 1) to develop and validate a method for the simultaneous analysis of 22 lysosphingolipids and creatinine in filter paper urine discs using tandem mass spectrometry; 2) to establish normal reference values; and 3) to evaluate lysosphingolipid concentrations in samples from patients with sphingolipidosis.
- Pr Christiane Auray-Blais, Professor, Faculty of Medicine and Health Sciences FMSS Department of Pediatrics, Université de Sherbrooke
- CHU Sherbrooke Research Centre
- Metabolic and cardiovascular health