Plasma Glucosylsphingosine: A Specific and Sensitive Biomarker for the Primary Diagnostic and Follow-Up in Patients with Gaucher Disease
10th Annual WORLD Symposium, Feb 11-13, 2014; San Diego, USA Giese AK, Grittner U, Lukas J, Mascher D, Mühl A, Eichler S, Mascher H, Rolfs A
Biomarkers play an essential role in the early detection, and monitoring of metabolic diseases, this also holds true for Lysosomal Storage Disorders (LSDs), a highly heterogenous group of hereditary diseases where defects in genes encoding for lysosomal enzymes or transporters result in the accumulation or misdistribution of non-degraded macromolecules. Ideally a biomarker can be used for the initial diagnosis, the determination of disease severity, monitoring of the progress of the disease and evaluation of treatment. Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.