Specifically, significantly higher lyso-Gb1 levels were identified at baseline in children with more symptomatic disease (i.e., thrombocytopenia, anemia, and hepatosplenomegaly) who subsequently underwent ERT compared with untreated children (p = 0.0003) and, at the last visit of treated patients, in children with severe GD1 compared to those with mild GD1 (p = 0.009). Here, GABBR1 is linked to Hepatosplenomegaly.