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As to the relation of the urinary Gb3 level and renal events, our study revealed that the urinary Gb3 level in Fabry patients experiencing renal events tended to be higher than that in ones who did not have any renal events in each phenotypic group of the disease. Biotin-thiamine-responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), whi