The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of fabry disease.

•The total concentration of Lyso-Gb3 plus its analogues in urine, is specific to FD and may provide extra diagnostic utility for both classical and non-classical FD patients.•The total concentration of Lyso-Gb3 plus its analogues in urine, enhances the diagnostic sensitivity to 100% and helps to avoid any overlap between the levels in FD patients and healthy control subjects.