Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease

Fabry disease is a lysosomal storage disease caused by α-galactosidase A (α-Gal A) deficiency, resulting in globotriaosylceramide (GL-3) accumulation within lysosomes and various clinical features, including kidney failure. GL-3 may be converted to deacylated globotriaosylceramide (globotriaosylsphingosine: lyso-GL-3) [1], but the exact source of lyso-GL-3 is under investigation. Treatment of Fabry disease consists of replacing the deficient enzyme with recombinant human α-Gal A, and experts recommend starting enzyme replacement therapy if a symptom or sign is noticed [2]. Recent studies proposed lyso-GL-3 as a better biomarker of treatment response than GL-3 [3-5]. In this study, we first report a case of Fabry disease in a Korean patient in whom lyso-GL-3 level was high and subsequently declined after enzyme replacement therapy. The present case may be helpful for physicians in clinical practice to trace plasma lyso-GL-3 before and after enzyme replacement therapy in Korean patients with Fabry disease. KCI Citation Count: 4