title: High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3) in Urine Collected on Filter Paper.
abstract: Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populations is quite variable, ranging from 1:1400 to 1:117,000. Its complexity lies in the marked genotypic and phenotypic heterogeneity. Despite the fact that it is an X-linked disease, more than 600 mutations affect both males and females. In fact, some females may be affected as severely as males. The purpose of this protocol is to focus on the high-risk screening of patients who might have Fabry disease using a simple, rapid, non-invasive high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method for urinary globotriaosylceramide (Gb3) analysis. Urine filter paper samples are easily collected at home by patients and sent by regular mail. This method has been successfully used for high-risk screening of patients with ophthalmologic manifestations and in an on-going study for high-risk screening of Fabry disease in patients with chronic kidney diseases. © 2017 by John Wiley & Sons, Inc.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
authors.forename: Christiane
authors.initials: C
authors.lastname: Auray-Blais
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
authors.forename: Pamela
authors.initials: P
authors.lastname: Lavoie
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
authors.forename: Michel
authors.initials: M
authors.lastname: Boutin
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
authors.forename: Mona
authors.initials: M
authors.lastname: Abaoui
mesh_terms: D000795:Fabry Disease / Q000175:diagnosis* / Q000652:urine*; D005260:Female; D005374:Filtration / Q000295:instrumentation*; D005838:Genotype; D006801:Humans; D008297:Male; D010209:Paper; D011177:Postal Service; D053719:Tandem Mass Spectrometry; D014281:Trihexosylceramides / Q000652:urine*; D000519:alpha-Galactosidase
chemical_list: D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase
keywords: Fabry disease; filter paper sample; globotriaosylceramide (Gb3); high-risk screening; mass spectrometry; urine