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angiokeratoma, and microalbuminuria during early childhood and adolescence. In later stages, they may develop progressive kidney disease, hypertrophic cardiomyopathy, and cerebrovascular disease, which eventually lead to significant morbidity and mortality [1-4]. In contrast, patients with non-classical FD tend to present mild symptoms, occasionally limited to heart or kidney conditions [5]. Therefore, the diagnosis of FD is often delayed or missed completely because of the wide variety of symptoms [6]. The average delay from the onset of symptoms to diagnosis is more than a decade [6]. The introduction of enzyme replacement therapy (ERT) may make it possible to halt or even reverse A novel GLA mutation in a Korean boy with an early cardiac manifestation of Fabry disease