Globotriaosylsphingosine (Lyso-GB3 bzw. Lyso-GL3), an Excellent Biomarker for Children with Fabry Disease

Introduction: Fabry disease (FD) is an X-linked disorder that affects both males and females and is caused by deficient activity of the lysosomal enzyme a-galactosidase A (a-Gal A).¹ This leads to the accumulation of globotriaosylceramide (GL-3, Gb3), predominantly in the lysosomes of multiple cell types, and the elevation of globotriaosylsphingosine (lyso-GL-3, lyso-Gb3), the more water-soluble deacylated form of GL-3, in the plasma.²

Table 1 Lyso-GB3 levels

	Start	6 Mo	12 Mo
Index patient	127	8.6	4.6
Brother	128	125	127
Mother	46	48	52
Uncle	86	42	39

Case Series We report a very interesting Fabry family with and without enzyme replacement therapy ([Table 1]).

Conclusion: Lyso-GB3 is an excellent marker for classic Fabry disease, especially for an excellent prognostic marker for Fabry children.

• Reference

• 1 Germain DP.. Fabry disease. Orphanet J Rare Dis 201;5:30. doi: 10.1186/1750-1172-5-30
• 2 Aerts JM, Groener JE, Kuiper S. , et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008; 105 (08) 2812-2817