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First reported in 2008 by Aerts et al, globotriaosylsphingosine or Lyso-GL-3 (also referred to as Lyso-Gb3) is a pathogenic, vasoactive metabolite, which may be a useful biomarker for diagnosing Fabry, monitoring dise...
Galectin-3 is a 29 to 35 kDa chimera-type galectin − the only member of the galectin family with an extended N-terminal domain constituted of tandem repeats of short amino acid segments (a total of 110-130 amino acids...
This test is used to diagnose and monitor patients with Fabry disease. The following algorithms are available: -Fabry Disease: Newborn Screen-Positive Follow-up. -Fabry Disease Diagnostic Testing Algorithm. Liquid Chr...
Globotriaosylceramide is a globoside. [1] . It is also known as CD77, Gb3, GL3, and ceramide trihexoside. [2] . It is one of the few clusters of differentiation that is not a protein. It is formed by the alpha linkage...
Pathogenic variants in the GLA gene lead to deficiency of α-GAL A activity resulting in GL-3 and lyso-GL-3 accumulation in various tissues. 1,2 Accumulation of GL-3 in vascular endothelia causes tissue damage in a num...
Off-site Collection: Transfer 2.0 mL plasma (Min. 1.0 mL) to a plastic aliquot tube affixed with a large Epic label. Freeze at -20 C. Send frozen serum via Delivery Express to LabCorp Seattle.
The deficiency of α-GAL activity impairs globotriaosylceramide (GL3) metabolism, leading to the progressive accumulation of GL3 and lyso-GL3 (globotriaosylsphingosine) in various organs, especially the heart, kidneys,...
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Globotriaosylceramide (GL3) is defined as a glycolipid that accumulates in lysosomes in Fabry disease, leading to structural damage and functional loss in affected tissues.
Fabry disease is a rare genetic disease that runs in families. People affected by the disease cannot breakdown (metabolize) a fat called globotriaosylcermide (GL3). This leads to a buildup of GL3 in the cells of the b...