Article
Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.
Journal of inherited metabolic disease - 1 Mar 2018
Alharbi Fahad J, Baig Shanat, Auray-Blais Christiane, Boutin Michel, Ward Douglas G, Wheeldon Nigel, Steed Rick, Dawson Charlotte, Hughes Derralynn, Geberhiwot Tarekegn
Abstract excerpt
Fabry disease (FD) is a multi-systemic X-linked lysosomal disorder caused by the deficient activity of α-galactosidase-A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype. Consensus guidelines acknowledged the use of globotriaosylsphingosine (Lyso-Gb3) as a diagnostic marker for classical FD but its...
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