Journal article

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease

Andrew Talbot, Kathy Nicholls, Janice M Fletcher, Maria Fuller

MOLECULAR GENETICS AND METABOLISM | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2017

Abstract

Fabry disease (FD) results from impaired globotriaosylceramide (Gb3) catabolism, due to a deficiency of the lysosomal hydrolase, α-galactosidase A (α-GalA). As a direct consequence, the deacetylated derivative, globotriaosylsphingosine (lyso-Gb3), is produced and contemporary evidence exemplifies its use as a biomarker. Here we developed a simple method to enable quantification of lyso-Gb3 in just 0.01mL of plasma and explored its concentration in a cohort of 73 Australian FD patients, as well as in individuals with other sphingolipidoses. In 2000 patients without FD, but with related metabolic conditions, lyso-Gb3 returned concentrations of <5pmol/mL. In the FD cohort, 53/60 patients with c..

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